Canonical Allele Identifier: CA212924

Gene:

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.640836C>T , CM000686.2:g.640836C>T	GRCh38
NC_000024.9:g.551571C>T , CM000686.1:g.551571C>T	GRCh37
NC_000024.8:g.521571C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.502C>T	ENSP00000518639.1:p.Arg168Trp
ENST00000711142.1:c.502C>T	ENSP00000518640.1:p.Arg168Trp
ENST00000711143.1:c.502C>T	ENSP00000518641.1:p.Arg168Trp
ENST00000711145.1:c.502C>T	ENSP00000518642.1:p.Arg168Trp