Canonical Allele Identifier: CA2221132758
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108533G= , CM000678.2:g.49108533G= GRCh38
NC_000016.9:g.49142444G= , CM000678.1:g.49142444G= GRCh37
NC_000016.8:g.47699945G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1411C=
XR_001752138.2:n.591+5443C=
XR_933517.2:n.810+1411C=