Canonical Allele Identifier: CA2307321132
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60295884T>G , CM000680.2:g.60295884T>G GRCh38
NC_000018.9:g.57963117T>G , CM000680.1:g.57963117T>G GRCh37
NC_000018.8:g.56114097T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935553.1:n.234+1211T>G
XR_935554.1:n.494T>G