Revel Score:
ENST00000416691
0.518
ENST00000255468
0.518
ENST00000455146 (MANE Select)
0.518
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000554 (AMR)
Exomes Max Group AF
0.00000743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39682261A>G , CM000675.2:g.39682261A>G | GRCh38 |
| NC_000013.10:g.40256398A>G , CM000675.1:g.40256398A>G | GRCh37 |
| NC_000013.9:g.39154398A>G | NCBI36 |
| NG_028352.1:g.31635A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.785A>G MANE Select | ENSP00000397441.2:p.Tyr262Cys | |
| ENST00000356576.8:c.*622A>G | ENSP00000348983.4:n.*622A>G | |
| ENST00000416691.5:c.785A>G | ENSP00000403733.1:p.Tyr262Cys | |
| ENST00000455146.7:c.785A>G | ENSP00000397441.2:p.Tyr262Cys | |
| ENST00000465775.1:n.541A>G | ||
| ENST00000536488.5:c.517A>G | ||
| ENST00000537156.1:n.436A>G | ||
| NM_001145079.1:c.785A>G | NP_001138551.1:p.Tyr262Cys | |
| NM_020751.2:c.785A>G | NP_065802.1:p.Tyr262Cys | |
| NR_026745.1:n.950A>G | ||
| XM_011535168.1:c.785A>G | XP_011533470.1:p.Tyr262Cys | |
| XM_011535169.1:c.629A>G | XP_011533471.1:p.Tyr210Cys | |
| XM_011535170.1:c.629A>G | XP_011533472.1:p.Tyr210Cys | |
| NM_020751.3:c.785A>G MANE Select | NP_065802.1:p.Tyr262Cys | |
| NM_001145079.2:c.785A>G | NP_001138551.1:p.Tyr262Cys |