Canonical Allele Identifier: CA1748500679
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142490201C>A , CM000669.2:g.142490201C>A GRCh38
NC_000007.12:g.141858674C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745389.1:n.76-21890G>T
XR_001745390.1:n.61+9983G>T
XR_002956589.1:n.76-21890G>T