Canonical Allele Identifier: CA2467796122

Gene:

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.634780G>T , CM000686.2:g.634780G>T	GRCh38
NC_000024.9:g.545515G>T , CM000686.1:g.545515G>T	GRCh37
NC_000024.8:g.515515G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.440G>T	ENSP00000518639.1:p.Arg147Leu
ENST00000711142.1:c.440G>T	ENSP00000518640.1:p.Arg147Leu
ENST00000711143.1:c.440G>T	ENSP00000518641.1:p.Arg147Leu
ENST00000711145.1:c.440G>T	ENSP00000518642.1:p.Arg147Leu