Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 17:19568310 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001057

Most severe consequence
Evidence status

Clinical significance

This variation has 17 HGVS names - click the plus to show

17:g.19568310A>G
ENST00000176643.6:c.1157A>G
ENSP00000176643.6:p.Asn386Ser
ENST00000582991.1:c.1107+1498A>G
ENST00000579855.1:c.1157A>G
ENSP00000463637.1:p.Asn386Ser
ENST00000571163.1:c.176A>G
ENSP00000459977.1:p.Asn59Ser
ENST00000395575.2:c.1157A>G
ENSP00000378942.2:p.Asn386Ser
ENST00000339618.4:c.1157A>G
ENSP00000345774.4:p.Asn386Ser
ENST00000581518.1:c.1157A>G
ENSP00000461916.1:p.Asn386Ser
ENST00000573947.1:c.114+1498A>G
ENST00000476965.1:n.907A>G
ENST00000472059.1:c.*715A>G

Variation displays