Canonical Allele Identifier: CA2806957777
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108495A>C , CM000678.2:g.49108495A>C GRCh38
NC_000016.9:g.49142406A>C , CM000678.1:g.49142406A>C GRCh37
NC_000016.8:g.47699907A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1449T>G
XR_001752138.2:n.591+5481T>G
XR_933517.2:n.810+1449T>G