Canonical Allele Identifier: CA624727063
Gene:

Linked Data

dbSNP Id: rs1478090181
gnomAD v2: 17-8040542-A-G
gnomAD v3: 17-8137224-A-G
gnomAD v4: 17-8137224-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137224A>G , CM000679.2:g.8137224A>G GRCh38
NC_000017.10:g.8040542A>G , CM000679.1:g.8040542A>G GRCh37
NC_000017.9:g.7981267A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1625A>G
XR_934203.1:n.70-2253A>G
XR_934202.2:n.414-1625A>G