Canonical Allele Identifier: CA2150103334
Community Standard Title: NC_000014.9:g.81168979C=
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81168979C= , CM000676.2:g.81168979C= GRCh38
NC_000014.8:g.81635323C= , CM000676.1:g.81635323C= GRCh37
NC_000014.7:g.80705076C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001751021.1:n.2564+1130G=
XR_001751022.1:n.2564+1130G=
XR_001751023.1:n.2564+1130G=
XR_245790.3:n.1897+1130G=
XR_944073.1:n.648+176C=
XR_944073.2:n.1173+176C=