| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128123C>T , CM000672.2:g.43128123C>T | GRCh38 |
| NC_000010.10:g.43623571C>T , CM000672.1:g.43623571C>T | GRCh37 |
| NC_000010.9:g.42943577C>T | NCBI36 |
| NG_007489.1:g.56055C>T , LRG_518:g.56055C>T |
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.3199C>T MANE Select | NP_066124.1:p.Pro1067Ser |
| ENST00000355710.8:c.3199C>T MANE Select | ENSP00000347942.3:p.Pro1067Ser |
| NM_020975.4:c.3199C>T , LRG_518t1:c.3199C>T | NP_066124.1:p.Pro1067Ser |
| NM_020975.5:c.3199C>T | NP_066124.1:p.Pro1067Ser |
| ENST00000355710.7:c.3199C>T | ENSP00000347942.3:p.Pro1067Ser |
| ENST00000615310.4:c.*548C>T | ENSP00000480088.1:n.*548C>T |
| ENST00000615310.5:c.*1369C>T | ENSP00000480088.2:n.*1369C>T |
| ENST00000683007.1:n.4162C>T | |
| XM_011540027.1:c.3199C>T | XP_011538329.1:p.Pro1067Ser |