Canonical Allele Identifier: CA2508234514
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87152181C>T , CM000677.2:g.87152181C>T GRCh38
NC_000015.9:g.87695412C>T , CM000677.1:g.87695412C>T GRCh37
NC_000015.8:g.85496416C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932582.1:n.167-26046C>T
XR_932582.2:n.167-26046C>T