Canonical Allele Identifier: CA214247

Gene:

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.634687A>G , CM000686.2:g.634687A>G	GRCh38
NC_000024.9:g.545422A>G , CM000686.1:g.545422A>G	GRCh37
NC_000024.8:g.515422A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.347A>G	ENSP00000518639.1:p.Lys116Arg
ENST00000711142.1:c.347A>G	ENSP00000518640.1:p.Lys116Arg
ENST00000711143.1:c.347A>G	ENSP00000518641.1:p.Lys116Arg
ENST00000711145.1:c.347A>G	ENSP00000518642.1:p.Lys116Arg