Canonical Allele Identifier:
CA13258203
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6904301T>C , CM000672.2:g.6904301T>C | GRCh38 |
| NC_000010.10:g.6946263T>C , CM000672.1:g.6946263T>C | GRCh37 |
| NC_000010.9:g.6986269T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001747351.1:n.993+16128A>G | |
| XR_001747352.1:n.993+16128A>G | |
| XR_001747353.1:n.813+14624A>G | |
| XR_001747354.1:n.883+30812A>G | |
| XR_930623.1:n.940+14624A>G | |
| XR_930623.2:n.1131+14624A>G | |
| XR_930624.1:n.938+14624A>G | |
| XR_930624.2:n.1131+14624A>G | |
| XR_930625.1:n.939+14624A>G | |
| XR_930625.2:n.1131+14624A>G | |
| XR_930626.1:n.935+14624A>G | |
| XR_930626.2:n.1131+14624A>G | |
| XR_930627.1:n.940+14624A>G | |
| XR_930627.2:n.1131+14624A>G |