Canonical Allele Identifier: CA833020959
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127524904A>T , CM000669.2:g.127524904A>T GRCh38
NC_000007.13:g.127164958A>T , CM000669.1:g.127164958A>T GRCh37
NC_000007.12:g.126952194A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927939.1:n.387+10245T>A
XR_001745351.1:n.2291+10245T>A
XR_001745352.1:n.493+10245T>A