Canonical Allele Identifier: CA2581261380
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50109033A>C , CM000678.2:g.50109033A>C GRCh38
NC_000016.9:g.50142944A>C , CM000678.1:g.50142944A>C GRCh37
NC_000016.8:g.48700445A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011523490.1:c.115-2381T>G XP_011521792.1:n.115-2381T>G