Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
C/A/T | Ambiguity code: H
Location

Chromosome 16:28493821 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970334, CM003663

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB FINDIS1049, 14570

This variation has 86 HGVS names - click the plus to show

Variant allele A
16:g.28493821C>A
ENST00000563874.1:n.2317G>T
ENST00000395653.4:c.583G>T
ENSP00000379014.4:p.Glu195Ter
ENST00000354630.5:c.855+108G>T
ENST00000357857.9:c.721G>T
ENSP00000350523.9:p.Glu241Ter
ENST00000564574.1:n.931G>T
ENST00000561689.1:n.724G>T
ENST00000357076.5:c.553G>T
ENSP00000349586.5:p.Glu185Ter
ENST00000567963.1:c.883G>T
ENSP00000455387.1:p.Glu295Ter
ENST00000569430.1:c.883G>T
ENSP00000454229.1:p.Glu295Ter
ENST00000565316.1:c.855+108G>T
ENST00000568224.1:c.649G>T
ENSP00000454253.1:p.Glu217Ter
ENST00000568472.1:n.363G>T
ENST00000359984.7:c.883G>T
ENSP00000353073.7:p.Glu295Ter
ENST00000360019.2:c.883G>T
ENSP00000353116.2:p.Glu295Ter
ENST00000333496.9:c.811G>T
ENSP00000329171.9:p.Glu271Ter
ENST00000565354.1:n.102G>T
ENST00000355477.5:c.739G>T
ENSP00000347660.5:p.Glu247Ter
ENST00000566057.1:c.*179G>T
ENST00000535392.1:c.649G>T
ENSP00000443221.1:p.Glu217Ter
ENST00000568452.1:n.883G>T
ENST00000565140.1:c.*120G>T
ENST00000569030.1:c.553G>T
ENSP00000454680.1:p.Glu185Ter
ENST00000568558.1:c.424G>T
ENSP00000455603.1:p.Glu142Ter
ENST00000568422.1:c.*120G>T
ENST00000567495.1:c.*120G>T
ENST00000357806.7:c.586G>T
ENSP00000350457.7:p.Glu196Ter
ENST00000568076.1:n.666G>T
ENST00000568497.1:c.*179G>T

Variant allele T
16:g.28493821C>T
ENST00000563874.1:n.2317G>A
ENST00000395653.4:c.583G>A
ENSP00000379014.4:p.Glu195Lys
ENST00000354630.5:c.855+108G>A
ENST00000357857.9:c.721G>A
ENSP00000350523.9:p.Glu241Lys
ENST00000564574.1:n.931G>A
ENST00000561689.1:n.724G>A
ENST00000357076.5:c.553G>A
ENSP00000349586.5:p.Glu185Lys
ENST00000567963.1:c.883G>A
ENSP00000455387.1:p.Glu295Lys
ENST00000569430.1:c.883G>A
ENSP00000454229.1:p.Glu295Lys
ENST00000565316.1:c.855+108G>A
ENST00000568224.1:c.649G>A
ENSP00000454253.1:p.Glu217Lys
ENST00000568472.1:n.363G>A
ENST00000359984.7:c.883G>A
ENSP00000353073.7:p.Glu295Lys
ENST00000360019.2:c.883G>A
ENSP00000353116.2:p.Glu295Lys
ENST00000333496.9:c.811G>A
ENSP00000329171.9:p.Glu271Lys
ENST00000565354.1:n.102G>A
ENST00000355477.5:c.739G>A
ENSP00000347660.5:p.Glu247Lys
ENST00000566057.1:c.*179G>A
ENST00000535392.1:c.649G>A
ENSP00000443221.1:p.Glu217Lys
ENST00000568452.1:n.883G>A
ENST00000565140.1:c.*120G>A
ENST00000569030.1:c.553G>A
ENSP00000454680.1:p.Glu185Lys
ENST00000568558.1:c.424G>A
ENSP00000455603.1:p.Glu142Lys
ENST00000568422.1:c.*120G>A
ENST00000567495.1:c.*120G>A
ENST00000357806.7:c.586G>A
ENSP00000350457.7:p.Glu196Lys
ENST00000568076.1:n.666G>A
ENST00000568497.1:c.*179G>A

Variation displays