Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58401747G>A , CM000677.2:g.58401747G>A | GRCh38 |
| NC_000015.9:g.58693946G>A , CM000677.1:g.58693946G>A | GRCh37 |
| NC_000015.8:g.56481238G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558239.5:c.-172+18224C>T | ENSP00000453292.1:n.-172+18224C>T | |
| ENST00000560863.5:n.415+18224C>T | ||
| XR_429537.2:n.164+18224C>T | ||
| XR_932289.1:n.165-16891C>T | ||
| XR_001751556.2:n.216+18224C>T | ||
| XR_001751557.2:n.216+18224C>T | ||
| XR_001751558.2:n.216+18224C>T | ||
| XR_001751559.2:n.216+18224C>T | ||
| XR_001751560.2:n.216+18224C>T | ||
| XR_001751563.2:n.216+18224C>T | ||
| XR_001751565.2:n.217-13251C>T | ||
| XR_429537.4:n.216+18224C>T |