Canonical Allele Identifier: CA1282456528
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079874G= , CM000664.2:g.118079874G= GRCh38
NC_000002.11:g.118837450G= , CM000664.1:g.118837450G= GRCh37
NC_000002.10:g.118553920G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2342C= XP_011510607.1:n.697-2342C=
XR_001739662.2:n.138+8377C=