Canonical Allele Identifier:
CA924593048
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.7102293T>C , CM000672.2:g.7102293T>C | GRCh38 |
| NC_000010.10:g.7144255T>C , CM000672.1:g.7144255T>C | GRCh37 |
| NC_000010.9:g.7184261T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930623.1:n.172+17338A>G | ||
| XR_930624.1:n.170+17338A>G | ||
| XR_930625.1:n.171+17338A>G | ||
| XR_930626.1:n.167+17338A>G | ||
| XR_930627.1:n.172+17338A>G | ||
| XR_001747351.1:n.363+17338A>G | ||
| XR_001747352.1:n.363+17338A>G | ||
| XR_001747354.1:n.363+17338A>G | ||
| XR_930623.2:n.363+17338A>G | ||
| XR_930624.2:n.363+17338A>G | ||
| XR_930625.2:n.363+17338A>G | ||
| XR_930626.2:n.363+17338A>G | ||
| XR_930627.2:n.363+17338A>G |