Canonical Allele Identifier: CA2809162161
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237288G>C , CM000679.2:g.30237288G>C GRCh38
NC_000017.10:g.28564306G>C , CM000679.1:g.28564306G>C GRCh37
NC_000017.9:g.25588432G>C NCBI36
NG_011747.2:g.3649C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+218G>C
XR_001752824.1:n.280+218G>C