Canonical Allele Identifier: CA2072411458
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529529T= , CM000674.2:g.131529529T= GRCh38
NC_000012.11:g.132014074T= , CM000674.1:g.132014074T= GRCh37
NC_000012.10:g.130580027T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+246A=
XR_001749407.2:n.1067+246A=