Canonical Allele Identifier: CA1098599454
Gene:

Linked Data

gnomAD v3: 7-13514393-G-A
gnomAD v4: 7-13514393-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514393G>A , CM000669.2:g.13514393G>A GRCh38
NC_000007.13:g.13554018G>A , CM000669.1:g.13554018G>A GRCh37
NC_000007.12:g.13520543G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.148-187923G>A