Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102332560T>A , CM000674.2:g.102332560T>A | GRCh38 |
| NC_000012.11:g.102726338T>A , CM000674.1:g.102726338T>A | GRCh37 |
| NC_000012.10:g.101250468T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001749285.1:n.647-16323T>A | |
| XR_001749286.1:n.208-16323T>A | |
| XR_945270.1:n.532-16323T>A | |
| XR_945271.1:n.532-16323T>A | |
| XR_945272.1:n.532-16323T>A | |
| XR_945273.1:n.531+17070T>A | |
| XR_945274.1:n.208-16323T>A | |
| XR_945277.1:n.532-16323T>A | |
| XR_945278.1:n.220-5289A>T |