Canonical Allele Identifier: CA533523386
Gene:

Linked Data

dbSNP Id: rs1393089044
gnomAD v2: 2-65667274-C-A
gnomAD v3: 2-65440140-C-A
gnomAD v4: 2-65440140-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.65440140C>A , CM000664.2:g.65440140C>A GRCh38
NC_000002.11:g.65667274C>A , CM000664.1:g.65667274C>A GRCh37
NC_000002.10:g.65520778C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940190.1:n.181+3258C>A
XR_940187.3:n.1439-55G>T