Canonical Allele Identifier: CA2806957778
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108539C>G , CM000678.2:g.49108539C>G GRCh38
NC_000016.9:g.49142450C>G , CM000678.1:g.49142450C>G GRCh37
NC_000016.8:g.47699951C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1405G>C
XR_001752138.2:n.591+5437G>C
XR_933517.2:n.810+1405G>C