Canonical Allele Identifier: CA541643521
Gene:

Linked Data

dbSNP Id: rs1403077748
gnomAD v2: 3-21248709-G-A
gnomAD v3: 3-21207217-G-A
gnomAD v4: 3-21207217-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207217G>A , CM000665.2:g.21207217G>A GRCh38
NC_000003.11:g.21248709G>A , CM000665.1:g.21248709G>A GRCh37
NC_000003.10:g.21223713G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940646.1:n.254-3781G>A
XR_940646.2:n.547-3781G>A