Canonical Allele Identifier: CA833710524
Gene:

Linked Data

dbSNP Id: rs1293670698
gnomAD v3: 7-13514467-C-A
gnomAD v4: 7-13514467-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514467C>A , CM000669.2:g.13514467C>A GRCh38
NC_000007.13:g.13554092C>A , CM000669.1:g.13554092C>A GRCh37
NC_000007.12:g.13520617C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-187849C>A