Canonical Allele Identifier: CA254914

Gene:

Linked Data

• ClinVar Variation Id: 9875
• ClinVar RCV Id: RCV000010551
• dbSNP Id: rs137852554
• PubMed: PMID:11030412

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711141.1:c.394C>G	ENSP00000518639.1:p.Leu132Val
ENST00000711142.1:c.394C>G	ENSP00000518640.1:p.Leu132Val
ENST00000711143.1:c.394C>G	ENSP00000518641.1:p.Leu132Val
ENST00000711145.1:c.394C>G	ENSP00000518642.1:p.Leu132Val