Canonical Allele Identifier: CA1282456448
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079678C= , CM000664.2:g.118079678C= GRCh38
NC_000002.11:g.118837254C= , CM000664.1:g.118837254C= GRCh37
NC_000002.10:g.118553724C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2146G= XP_011510607.1:n.697-2146G=
XR_001739662.2:n.138+8573G=