Canonical Allele Identifier: CA1035827794

Gene:

Linked Data

• dbSNP Id: rs1680370197
• gnomAD v3: 2-122883768-A-C
• gnomAD v4: 2-122883768-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883768A>C , CM000664.2:g.122883768A>C	GRCh38
NC_000002.11:g.123641344A>C , CM000664.1:g.123641344A>C	GRCh37
NC_000002.10:g.123357814A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1174A>C
XR_001739692.1:n.1451-1174A>C
XR_923292.2:n.1358-1174A>C