Canonical Allele Identifier: CA2467802750

Gene:

Linked Data

• dbSNP Id: rs371048081

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.641052G>A , CM000686.2:g.641052G>A	GRCh38
NC_000024.9:g.551787G>A , CM000686.1:g.551787G>A	GRCh37
NC_000024.8:g.521787G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.598G>A	ENSP00000518639.1:p.Val200Ile
ENST00000711142.1:c.598G>A	ENSP00000518640.1:p.Val200Ile
ENST00000711143.1:c.598G>A	ENSP00000518641.1:p.Val200Ile
ENST00000711145.1:c.598G>A	ENSP00000518642.1:p.Val200Ile