Canonical Allele Identifier: CA287548388
Gene:

Linked Data

dbSNP Id: rs577710764
gnomAD v3: 17-8137169-G-A
gnomAD v4: 17-8137169-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137169G>A , CM000679.2:g.8137169G>A GRCh38
NC_000017.10:g.8040487G>A , CM000679.1:g.8040487G>A GRCh37
NC_000017.9:g.7981212G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1680G>A
XR_934203.1:n.70-2308G>A
XR_934202.2:n.414-1680G>A