Canonical Allele Identifier: CA2221132872
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108764C= , CM000678.2:g.49108764C= GRCh38
NC_000016.9:g.49142675C= , CM000678.1:g.49142675C= GRCh37
NC_000016.8:g.47700176C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1180G=
XR_001752138.2:n.591+5212G=
XR_933517.2:n.810+1180G=