Canonical Allele Identifier: CA2809162080
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237128A>C , CM000679.2:g.30237128A>C GRCh38
NC_000017.10:g.28564146A>C , CM000679.1:g.28564146A>C GRCh37
NC_000017.9:g.25588272A>C NCBI36
NG_011747.2:g.3809T>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+58A>C
XR_001752824.1:n.280+58A>C