Canonical Allele Identifier: CA1282456453
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079682G= , CM000664.2:g.118079682G= GRCh38
NC_000002.11:g.118837258G= , CM000664.1:g.118837258G= GRCh37
NC_000002.10:g.118553728G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2150C= XP_011510607.1:n.697-2150C=
XR_001739662.2:n.138+8569C=