Revel Score:
ENST00000416691
0.808
ENST00000255468
0.808
ENST00000455146 (MANE Select)
0.808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39723394G>T , CM000675.2:g.39723394G>T | GRCh38 |
| NC_000013.10:g.40297531G>T , CM000675.1:g.40297531G>T | GRCh37 |
| NC_000013.9:g.39195531G>T | NCBI36 |
| NG_028352.1:g.72768G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.1646G>T MANE Select | ENSP00000397441.2:p.Gly549Val | |
| ENST00000356576.8:c.*1483G>T | ENSP00000348983.4:n.*1483G>T | |
| ENST00000416691.5:c.1646G>T | ENSP00000403733.1:p.Gly549Val | |
| ENST00000455146.7:c.1646G>T | ENSP00000397441.2:p.Gly549Val | |
| NM_001145079.1:c.1646G>T | NP_001138551.1:p.Gly549Val | |
| NM_020751.2:c.1646G>T | NP_065802.1:p.Gly549Val | |
| NR_026745.1:n.1811G>T | ||
| XM_011535168.1:c.1646G>T | XP_011533470.1:p.Gly549Val | |
| XM_011535169.1:c.1490G>T | XP_011533471.1:p.Gly497Val | |
| XM_011535170.1:c.1490G>T | XP_011533472.1:p.Gly497Val | |
| NM_020751.3:c.1646G>T MANE Select | NP_065802.1:p.Gly549Val | |
| NM_001145079.2:c.1646G>T | NP_001138551.1:p.Gly549Val |