Canonical Allele Identifier: CA1098940723
Gene:

Linked Data

dbSNP Id: rs533819450
gnomAD v3: 7-17957968-A-T
gnomAD v4: 7-17957968-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957968A>T , CM000669.2:g.17957968A>T GRCh38
NC_000007.13:g.17997591A>T , CM000669.1:g.17997591A>T GRCh37
NC_000007.12:g.17964116A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927078.1:n.271-702A>T