| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.27587981T>G , CM000680.2:g.27587981T>G | GRCh38 |
| NC_000018.9:g.25167945T>G , CM000680.1:g.25167945T>G | GRCh37 |
| NC_000018.8:g.23421943T>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001753533.1:n.247+4842A>C | |
| XR_001753534.1:n.247+4842A>C | |
| XR_001753535.1:n.196-5966A>C | |
| XR_001753536.1:n.196-5966A>C |