Canonical Allele Identifier: CA905231311
Gene:

Linked Data

dbSNP Id: rs1452783952
gnomAD v3: 3-21207192-G-A
gnomAD v4: 3-21207192-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207192G>A , CM000665.2:g.21207192G>A GRCh38
NC_000003.11:g.21248684G>A , CM000665.1:g.21248684G>A GRCh37
NC_000003.10:g.21223688G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940646.1:n.254-3806G>A
XR_940646.2:n.547-3806G>A