| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47374000G>A , CM000664.2:g.47374000G>A | GRCh38 |
| NC_000002.11:g.47601139G>A , CM000664.1:g.47601139G>A | GRCh37 |
| NC_000002.10:g.47454643G>A | NCBI36 |
| NG_012352.2:g.33838G>A , LRG_215:g.33838G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.377G>A MANE Select | NP_002345.2:p.Arg126Lys |
| ENST00000263735.9:c.377G>A MANE Select | ENSP00000263735.4:p.Arg126Lys |
| NM_002354.2:c.377G>A , LRG_215t1:c.377G>A | NP_002345.2:p.Arg126Lys |
| ENST00000263735.8:c.377G>A | ENSP00000263735.4:p.Arg126Lys |
| ENST00000405271.5:c.461G>A | ENSP00000385476.1:p.Arg154Lys |
| ENST00000456133.5:c.461G>A | ENSP00000410675.1:p.Arg154Lys |
| ENST00000474691.1:n.645G>A | |
| ENST00000490733.1:n.226G>A |