Canonical Allele Identifier: CA2504803577
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981213G>A , CM000670.2:g.88981213G>A GRCh38
NC_000008.10:g.89993442G>A , CM000670.1:g.89993442G>A GRCh37
NC_000008.9:g.90062558G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99152C>T