Canonical Allele Identifier: CA775632375
Gene:

Linked Data

dbSNP Id: rs1397509397
gnomAD v3: 17-8137638-G-A
gnomAD v4: 17-8137638-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137638G>A , CM000679.2:g.8137638G>A GRCh38
NC_000017.10:g.8040956G>A , CM000679.1:g.8040956G>A GRCh37
NC_000017.9:g.7981681G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934202.1:n.183-1211G>A
XR_934203.1:n.70-1839G>A
XR_934202.2:n.414-1211G>A