Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 16:28482500 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM003663, CM970334

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB FINDIS1049, 14570

This variation has 84 HGVS names - click the plus to show

Variant allele A
16:g.28482500C>A
ENST00000395653.5:c.583G>T
ENSP00000379014.4:p.Glu195Ter
ENST00000563874.2:n.2317G>T
ENST00000357857.10:c.721G>T
ENSP00000350523.9:p.Glu241Ter
ENST00000564574.2:n.931G>T
ENST00000561689.2:n.724G>T
ENST00000567963.2:c.883G>T
ENSP00000455387.1:p.Glu295Ter
ENST00000569430.2:c.883G>T
ENSP00000454229.1:p.Glu295Ter
ENST00000568224.1:c.649G>T
ENSP00000454253.1:p.Glu217Ter
ENST00000565316.2:c.855+108G>T
ENST00000568472.2:n.363G>T
ENST00000359984.8:c.577G>T
ENSP00000353073.8:p.Glu193Ter
ENST00000360019.3:c.883G>T
ENSP00000353116.2:p.Glu295Ter
ENST00000333496.10:c.811G>T
ENSP00000329171.9:p.Glu271Ter
ENST00000355477.6:c.*120G>T
ENST00000565354.2:n.102G>T
ENST00000566057.2:c.*179G>T
ENST00000568452.2:n.883G>T
ENST00000565140.2:c.*120G>T
ENST00000569030.2:c.553G>T
ENSP00000454680.1:p.Glu185Ter
ENST00000568558.2:c.424G>T
ENSP00000455603.1:p.Glu142Ter
ENST00000568422.2:c.*120G>T
ENST00000567495.2:c.*120G>T
ENST00000357806.8:c.586G>T
ENSP00000350457.7:p.Glu196Ter
ENST00000568076.2:n.666G>T
ENST00000568497.2:c.*179G>T
LRG_689:g.14803G>T
LRG_689t2.1:c.883G>T
LRG_689p2.1:p.Glu295Ter
LRG_689t1.1:c.883G>T
LRG_689p1.1:p.Glu295Ter

Variant allele T
16:g.28482500C>T
ENST00000395653.5:c.583G>A
ENSP00000379014.4:p.Glu195Lys
ENST00000563874.2:n.2317G>A
ENST00000357857.10:c.721G>A
ENSP00000350523.9:p.Glu241Lys
ENST00000564574.2:n.931G>A
ENST00000561689.2:n.724G>A
ENST00000567963.2:c.883G>A
ENSP00000455387.1:p.Glu295Lys
ENST00000569430.2:c.883G>A
ENSP00000454229.1:p.Glu295Lys
ENST00000568224.1:c.649G>A
ENSP00000454253.1:p.Glu217Lys
ENST00000565316.2:c.855+108G>A
ENST00000568472.2:n.363G>A
ENST00000359984.8:c.577G>A
ENSP00000353073.8:p.Glu193Lys
ENST00000360019.3:c.883G>A
ENSP00000353116.2:p.Glu295Lys
ENST00000333496.10:c.811G>A
ENSP00000329171.9:p.Glu271Lys
ENST00000355477.6:c.*120G>A
ENST00000565354.2:n.102G>A
ENST00000566057.2:c.*179G>A
ENST00000568452.2:n.883G>A
ENST00000565140.2:c.*120G>A
ENST00000569030.2:c.553G>A
ENSP00000454680.1:p.Glu185Lys
ENST00000568558.2:c.424G>A
ENSP00000455603.1:p.Glu142Lys
ENST00000568422.2:c.*120G>A
ENST00000567495.2:c.*120G>A
ENST00000357806.8:c.586G>A
ENSP00000350457.7:p.Glu196Lys
ENST00000568076.2:n.666G>A
ENST00000568497.2:c.*179G>A
LRG_689:g.14803G>A
LRG_689t2.1:c.883G>A
LRG_689p2.1:p.Glu295Lys
LRG_689t1.1:c.883G>A
LRG_689p1.1:p.Glu295Lys

Variation displays