Canonical Allele Identifier: CA1066140226

Gene:

Linked Data

• dbSNP Id: rs1560618905
• gnomAD v3: 4-102499665-A-C
• gnomAD v4: 4-102499665-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499665A>C , CM000666.2:g.102499665A>C	GRCh38
NC_000004.11:g.103420822A>C , CM000666.1:g.103420822A>C	GRCh37
NC_000004.10:g.103639854A>C	NCBI36
NG_050628.1:g.3337A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1584T>G	XP_011530769.1:n.643+1584T>G
NR_136202.1:n.48+2774T>G