Canonical Allele Identifier: CA2246165641
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137305C= , CM000679.2:g.8137305C= GRCh38
NC_000017.10:g.8040623C= , CM000679.1:g.8040623C= GRCh37
NC_000017.9:g.7981348C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1544C=
XR_934203.1:n.70-2172C=
XR_934202.2:n.414-1544C=