Canonical Allele Identifier: CA2467802774

Gene:

Linked Data

• dbSNP Id: rs1251005489

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.641075G>T , CM000686.2:g.641075G>T	GRCh38
NC_000024.9:g.551810G>T , CM000686.1:g.551810G>T	GRCh37
NC_000024.8:g.521810G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.621G>T	ENSP00000518639.1:p.Met207Ile
ENST00000711142.1:c.621G>T	ENSP00000518640.1:p.Met207Ile
ENST00000711143.1:c.621G>T	ENSP00000518641.1:p.Met207Ile
ENST00000711145.1:c.621G>T	ENSP00000518642.1:p.Met207Ile