Canonical Allele Identifier: CA844313422
Gene:

Linked Data

dbSNP Id: rs1480674904
gnomAD v3: 7-97388446-G-A
gnomAD v4: 7-97388446-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388446G>A , CM000669.2:g.97388446G>A GRCh38
NC_000007.13:g.97017758G>A , CM000669.1:g.97017758G>A GRCh37
NC_000007.12:g.96855694G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745293.1:n.127-59799C>T