Canonical Allele Identifier: CA2246165569
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137255T= , CM000679.2:g.8137255T= GRCh38
NC_000017.10:g.8040573T= , CM000679.1:g.8040573T= GRCh37
NC_000017.9:g.7981298T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1594T=
XR_934203.1:n.70-2222T=
XR_934202.2:n.414-1594T=