Canonical Allele Identifier: CA2806957783
Gene:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108782C>T , CM000678.2:g.49108782C>T GRCh38
NC_000016.9:g.49142693C>T , CM000678.1:g.49142693C>T GRCh37
NC_000016.8:g.47700194C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1162G>A
XR_001752138.2:n.591+5194G>A
XR_933517.2:n.810+1162G>A
Search 100 bp 5'
Search 100 bp 3'