Canonical Allele Identifier: CA1557963412
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549949C= , CM000667.2:g.79549949C= GRCh38
NC_000005.9:g.78845772C= , CM000667.1:g.78845772C= GRCh37
NC_000005.8:g.78881528C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2305C=
XR_948498.1:n.159+2112C=
XR_948499.1:n.67+1647C=
XR_948497.2:n.72+2305C=
XR_948498.2:n.159+2112C=
XR_948499.2:n.225+1647C=