Canonical Allele Identifier: CA1282456428
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079620G= , CM000664.2:g.118079620G= GRCh38
NC_000002.11:g.118837196G= , CM000664.1:g.118837196G= GRCh37
NC_000002.10:g.118553666G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2088C= XP_011510607.1:n.697-2088C=
XR_001739662.2:n.138+8631C=