Canonical Allele Identifier: CA2767150102
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79550041C>T , CM000667.2:g.79550041C>T GRCh38
NC_000005.9:g.78845864C>T , CM000667.1:g.78845864C>T GRCh37
NC_000005.8:g.78881620C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2397C>T
XR_948498.1:n.159+2204C>T
XR_948499.1:n.67+1739C>T
XR_948497.2:n.72+2397C>T
XR_948498.2:n.159+2204C>T
XR_948499.2:n.225+1739C>T