Canonical Allele Identifier: CA931367399

Gene:

Linked Data

• dbSNP Id: rs1848183755
• gnomAD v3: 10-94762586-G-A
• gnomAD v4: 10-94762586-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762586G>A , CM000672.2:g.94762586G>A	GRCh38
NC_000010.10:g.96522343G>A , CM000672.1:g.96522343G>A	GRCh37
NC_000010.9:g.96512333G>A	NCBI36
NG_008384.2:g.4881G>A
NG_008384.3:g.4906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464755.1:c.932-12472G>A	ENSP00000483243.1:n.932-12472G>A