Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58401790A>G , CM000677.2:g.58401790A>G | GRCh38 |
| NC_000015.9:g.58693989A>G , CM000677.1:g.58693989A>G | GRCh37 |
| NC_000015.8:g.56481281A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558239.5:c.-172+18181T>C | ENSP00000453292.1:n.-172+18181T>C | |
| ENST00000560863.5:n.415+18181T>C | ||
| XR_429537.2:n.164+18181T>C | ||
| XR_932289.1:n.165-16934T>C | ||
| XR_001751556.2:n.216+18181T>C | ||
| XR_001751557.2:n.216+18181T>C | ||
| XR_001751558.2:n.216+18181T>C | ||
| XR_001751559.2:n.216+18181T>C | ||
| XR_001751560.2:n.216+18181T>C | ||
| XR_001751563.2:n.216+18181T>C | ||
| XR_001751565.2:n.217-13294T>C | ||
| XR_429537.4:n.216+18181T>C |