Canonical Allele Identifier: CA931367410

Gene:

Linked Data

• dbSNP Id: rs982027545
• gnomAD v3: 10-94762603-C-G
• gnomAD v4: 10-94762603-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762603C>G , CM000672.2:g.94762603C>G	GRCh38
NC_000010.10:g.96522360C>G , CM000672.1:g.96522360C>G	GRCh37
NC_000010.9:g.96512350C>G	NCBI36
NG_008384.2:g.4898C>G
NG_008384.3:g.4923C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464755.1:c.932-12455C>G	ENSP00000483243.1:n.932-12455C>G