Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58343384C= , CM000677.2:g.58343384C= | GRCh38 |
| NC_000015.9:g.58635583C= , CM000677.1:g.58635583C= | GRCh37 |
| NC_000015.8:g.56422875C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000558239.5:c.-172+76587G= | ENSP00000453292.1:n.-172+76587G= |
| ENST00000560863.5:n.415+76587G= | |
| XR_001751556.2:n.216+76587G= | |
| XR_001751557.2:n.216+76587G= | |
| XR_001751558.2:n.216+76587G= | |
| XR_001751559.2:n.216+76587G= | |
| XR_001751560.2:n.216+76587G= | |
| XR_001751563.2:n.319+387G= | |
| XR_429537.2:n.654G= | |
| XR_429537.4:n.706G= |