Canonical Allele Identifier: CA10587408
Gene:

Linked Data

dbSNP Id: rs139059497

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.631017G>A , CM000686.2:g.631017G>A GRCh38
NC_000024.9:g.541752G>A , CM000686.1:g.541752G>A GRCh37
NC_000024.8:g.511752G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.120G>A ENSP00000518639.1:p.Glu40=
ENST00000711142.1:c.120G>A ENSP00000518640.1:p.Glu40=
ENST00000711143.1:c.120G>A ENSP00000518641.1:p.Glu40=
ENST00000711145.1:c.120G>A ENSP00000518642.1:p.Glu40=