| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47369518C>T , CM000664.2:g.47369518C>T | GRCh38 |
| NC_000002.11:g.47596657C>T , CM000664.1:g.47596657C>T | GRCh37 |
| NC_000002.10:g.47450161C>T | NCBI36 |
| NG_012352.2:g.29356C>T , LRG_215:g.29356C>T |
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.13C>T MANE Select | NP_002345.2:p.Gln5Ter |
| ENST00000263735.9:c.13C>T MANE Select | ENSP00000263735.4:p.Gln5Ter |
| NM_002354.2:c.13C>T , LRG_215t1:c.13C>T | NP_002345.2:p.Gln5Ter |
| ENST00000263735.8:c.13C>T | ENSP00000263735.4:p.Gln5Ter |
| ENST00000405271.5:c.160+283C>T | ENSP00000385476.1:n.160+283C>T |
| ENST00000419334.1:c.13C>T | ENSP00000389028.1:p.Gln5Ter |
| ENST00000456133.5:c.160+283C>T | ENSP00000410675.1:n.160+283C>T |
| ENST00000474691.1:n.44C>T |