Canonical Allele Identifier: CA3064221585

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.640851C>A , CM000686.2:g.640851C>A	GRCh38
NC_000024.9:g.551586C>A , CM000686.1:g.551586C>A	GRCh37
NC_000024.8:g.521586C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.517C>A	ENSP00000518639.1:p.Arg173Ser
ENST00000711142.1:c.517C>A	ENSP00000518640.1:p.Arg173Ser
ENST00000711143.1:c.517C>A	ENSP00000518641.1:p.Arg173Ser
ENST00000711145.1:c.517C>A	ENSP00000518642.1:p.Arg173Ser