Canonical Allele Identifier: CA844313421
Gene:

Linked Data

dbSNP Id: rs1200912874
gnomAD v4: 7-97388444-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388444C>T , CM000669.2:g.97388444C>T GRCh38
NC_000007.13:g.97017756C>T , CM000669.1:g.97017756C>T GRCh37
NC_000007.12:g.96855692C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745293.1:n.127-59797G>A