Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128212T>G , CM000672.2:g.43128212T>G | GRCh38 |
| NC_000010.10:g.43623660T>G , CM000672.1:g.43623660T>G | GRCh37 |
| NC_000010.9:g.42943666T>G | NCBI36 |
| NG_007489.1:g.56144T>G , LRG_518:g.56144T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.3288T>G MANE Select | NP_066124.1:p.Tyr1096Ter |
| ENST00000355710.8:c.3288T>G MANE Select | ENSP00000347942.3:p.Tyr1096Ter |
| NM_020975.4:c.3288T>G , LRG_518t1:c.3288T>G | NP_066124.1:p.Tyr1096Ter |
| NM_020975.5:c.3288T>G | NP_066124.1:p.Tyr1096Ter |
| ENST00000355710.7:c.3288T>G | ENSP00000347942.3:p.Tyr1096Ter |
| ENST00000615310.4:c.*637T>G | ENSP00000480088.1:n.*637T>G |
| ENST00000615310.5:c.*1458T>G | ENSP00000480088.2:n.*1458T>G |
| ENST00000683007.1:n.4251T>G | |
| XM_011540027.1:c.3288T>G | XP_011538329.1:p.Tyr1096Ter |