Canonical Allele Identifier: CA2246165467
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137175C= , CM000679.2:g.8137175C= GRCh38
NC_000017.10:g.8040493C= , CM000679.1:g.8040493C= GRCh37
NC_000017.9:g.7981218C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1674C=
XR_934203.1:n.70-2302C=
XR_934202.2:n.414-1674C=