Canonical Allele Identifier: CA1929213470

Gene:

Linked Data

• dbSNP Id: rs1848184433
• gnomAD v4: 10-94762613-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762613A>G , CM000672.2:g.94762613A>G	GRCh38
NC_000010.10:g.96522370A>G , CM000672.1:g.96522370A>G	GRCh37
NC_000010.9:g.96512360A>G	NCBI36
NG_008384.2:g.4908A>G
NG_008384.3:g.4933A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12445A>G	ENSP00000483243.1:n.932-12445A>G