Canonical Allele Identifier: CA1045734253
Gene:

Linked Data

dbSNP Id: rs1698204642
gnomAD v3: 3-21207213-C-G
gnomAD v4: 3-21207213-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.21207213C>G , CM000665.2:g.21207213C>G GRCh38
NC_000003.11:g.21248705C>G , CM000665.1:g.21248705C>G GRCh37
NC_000003.10:g.21223709C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940646.1:n.254-3785C>G
XR_940646.2:n.547-3785C>G