Canonical Allele Identifier: CA3064221584

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.634734C>A , CM000686.2:g.634734C>A	GRCh38
NC_000024.9:g.545469C>A , CM000686.1:g.545469C>A	GRCh37
NC_000024.8:g.515469C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.394C>A	ENSP00000518639.1:p.Leu132Ile
ENST00000711142.1:c.394C>A	ENSP00000518640.1:p.Leu132Ile
ENST00000711143.1:c.394C>A	ENSP00000518641.1:p.Leu132Ile
ENST00000711145.1:c.394C>A	ENSP00000518642.1:p.Leu132Ile