Canonical Allele Identifier: CA572977467
Gene:

Linked Data

dbSNP Id: rs1474233282
gnomAD v2: 7-13553824-G-A
gnomAD v3: 7-13514199-G-A
gnomAD v4: 7-13514199-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514199G>A , CM000669.2:g.13514199G>A GRCh38
NC_000007.13:g.13553824G>A , CM000669.1:g.13553824G>A GRCh37
NC_000007.12:g.13520349G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-188117G>A