Canonical Allele Identifier: CA154393473
Gene:

Linked Data

dbSNP Id: rs10255329
gnomAD v2: 7-13440222-G-C
gnomAD v3: 7-13400597-G-C
gnomAD v4: 7-13400597-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400597G>C , CM000669.2:g.13400597G>C GRCh38
NC_000007.13:g.13440222G>C , CM000669.1:g.13440222G>C GRCh37
NC_000007.12:g.13406747G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745097.1:n.147+90274G>C