Canonical Allele Identifier:
CA2002397781
Gene:
Linked Data
dbSNP Id:
rs1864211049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072596C>A , CM000673.2:g.116072596C>A | GRCh38 |
| NC_000011.9:g.115943314C>A , CM000673.1:g.115943314C>A | GRCh37 |
| NC_000011.8:g.115448524C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+418G>T | ||
| XR_948056.1:n.311-5391G>T | ||
| XR_948057.1:n.97+513G>T | ||
| XR_001748401.1:n.192+418G>T | ||
| XR_948055.2:n.192+418G>T | ||
| XR_948056.2:n.314-5391G>T | ||
| XR_948057.2:n.97+513G>T |