Canonical Allele Identifier: CA2580576631
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237328T>A , CM000679.2:g.30237328T>A GRCh38
NC_000017.10:g.28564346T>A , CM000679.1:g.28564346T>A GRCh37
NC_000017.9:g.25588472T>A NCBI36
NG_011747.2:g.3609A>T

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+258T>A
XR_001752824.1:n.280+258T>A