Canonical Allele Identifier: CA2246166012
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137863C= , CM000679.2:g.8137863C= GRCh38
NC_000017.10:g.8041181C= , CM000679.1:g.8041181C= GRCh37
NC_000017.9:g.7981906C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-986C=
XR_934203.1:n.70-1614C=
XR_934202.2:n.414-986C=