Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12387335A>C , CM000686.2:g.12387335A>C | GRCh38 |
| NC_000024.9:g.14499130A>C , CM000686.1:g.14499130A>C | GRCh37 |
| NC_000024.8:g.13009138A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-8586T>G | ||
| ENST00000689264.1:n.402-8586T>G | ||
| ENST00000651802.1:n.450+19049T>G | ||
| ENST00000651835.1:n.319+19461T>G | ||
| ENST00000382966.5:n.283+19461T>G | ||
| ENST00000493160.5:n.803-4005T>G | ||
| XR_001756061.1:n.609-8586T>G |