| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184597742A>G , CM000664.2:g.184597742A>G | GRCh38 |
| NC_000002.11:g.185462469A>G , CM000664.1:g.185462469A>G | GRCh37 |
| NC_000002.10:g.185170714A>G | NCBI36 |
| NG_046950.1:g.4377A>G |
| HGVS | Amino-acid Change |
|---|---|
| NR_171621.1:n.655+526T>C | |
| XM_011512285.1:c.618+526T>C | XP_011510587.1:n.618+526T>C |
| XR_923658.1:n.518T>C | |
| XR_923659.1:n.518T>C | |
| XR_923660.1:n.519T>C |