Revel Score:
ENST00000356316
0.563
ENST00000337522
0.563
ENST00000397163 (MANE Select)
0.563
ENST00000357568
0.563
ENST00000349748
0.563
ENST00000318023
0.563
ENST00000397200
0.563
ENST00000337571
0.563
ENST00000397204
0.563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410637A>G , CM000677.2:g.42410637A>G | GRCh38 |
| NC_000015.9:g.42702835A>G , CM000677.1:g.42702835A>G | GRCh37 |
| NC_000015.8:g.40490127A>G | NCBI36 |
| NG_008660.1:g.67535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.239A>G | ENSP00000336840.4:p.Tyr80Cys | |
| ENST00000349748.8:c.1958A>G | ENSP00000183936.4:p.Tyr653Cys | |
| ENST00000357568.8:c.2216A>G | ENSP00000350181.3:p.Tyr739Cys | |
| ENST00000397163.8:c.2234A>G MANE Select | ENSP00000380349.3:p.Tyr745Cys | |
| ENST00000397204.9:c.239A>G | ENSP00000380387.4:p.Tyr80Cys | |
| ENST00000466222.7:n.590A>G | ||
| ENST00000466369.5:n.2725A>G | ||
| ENST00000495723.1:n.3105A>G | ||
| ENST00000549793.5:n.2447A>G | ||
| ENST00000562199.2:c.238A>G | ENSP00000501034.1:p.Thr80Ala | |
| ENST00000567817.6:c.23A>G | ENSP00000456514.2:p.Tyr8Cys | |
| ENST00000568153.2:c.100A>G | ||
| ENST00000569136.6:c.239A>G | ENSP00000455254.1:p.Tyr80Cys | |
| ENST00000638141.2:n.1973A>G | ||
| ENST00000673646.1:c.798A>G | ENSP00000501007.1:n.798A>G | |
| ENST00000673684.1:n.216A>G | ||
| ENST00000673687.1:n.834A>G | ||
| ENST00000673692.1:c.239A>G | ENSP00000501138.1:p.Tyr80Cys | |
| ENST00000673705.1:c.560A>G | ENSP00000501021.1:n.560A>G | |
| ENST00000673743.1:c.137A>G | ENSP00000500989.1:p.Tyr46Cys | |
| ENST00000673750.1:c.239A>G | ENSP00000501173.1:p.Tyr80Cys | |
| ENST00000673771.1:c.239A>G | ENSP00000501023.1:p.Tyr80Cys | |
| ENST00000673774.1:n.1367A>G | ||
| ENST00000673839.1:c.239A>G | ENSP00000501188.1:p.Tyr80Cys | |
| ENST00000673851.1:c.239A>G | ENSP00000501142.1:p.Tyr80Cys | |
| ENST00000673854.1:n.5656A>G | ||
| ENST00000673886.1:c.239A>G | ENSP00000501155.1:p.Tyr80Cys | |
| ENST00000673890.1:c.239A>G | ENSP00000501293.1:p.Tyr80Cys | |
| ENST00000673928.1:c.239A>G | ENSP00000501099.1:p.Tyr80Cys | |
| ENST00000673936.1:c.239A>G | ENSP00000501189.1:p.Tyr80Cys | |
| ENST00000673939.1:c.239A>G | ENSP00000501129.1:p.Tyr80Cys | |
| ENST00000673950.1:n.508A>G | ||
| ENST00000673978.1:c.377A>G | ENSP00000500976.1:p.Tyr126Cys | |
| ENST00000673987.1:c.239A>G | ENSP00000501231.1:p.Tyr80Cys | |
| ENST00000674011.1:c.239A>G | ENSP00000501171.1:p.Tyr80Cys | |
| ENST00000674018.1:c.239A>G | ENSP00000501271.1:p.Tyr80Cys | |
| ENST00000674027.1:n.385A>G | ||
| ENST00000674041.1:c.239A>G | ENSP00000500956.1:p.Tyr80Cys | |
| ENST00000674052.1:c.458A>G | ENSP00000501057.1:p.Tyr153Cys | |
| ENST00000674093.1:c.239A>G | ENSP00000501303.1:p.Tyr80Cys | |
| ENST00000674119.1:c.239A>G | ENSP00000501217.1:p.Tyr80Cys | |
| ENST00000674135.1:c.416A>G | ENSP00000501178.1:p.Tyr139Cys | |
| ENST00000674139.1:c.239A>G | ENSP00000501054.1:p.Tyr80Cys | |
| ENST00000674146.1:c.239A>G | ENSP00000501175.1:p.Tyr80Cys | |
| ENST00000674149.1:c.239A>G | ENSP00000501112.1:p.Tyr80Cys | |
| ENST00000318023.11:c.2090A>G | ENSP00000326281.8:p.Tyr697Cys | |
| ENST00000337571.8:c.239A>G | ENSP00000336840.4:p.Tyr80Cys | |
| ENST00000349748.7:c.1958A>G | ENSP00000183936.4:p.Tyr653Cys | |
| ENST00000356316.7:c.239A>G | ENSP00000348667.4:p.Tyr80Cys | |
| ENST00000357568.7:c.2216A>G | ENSP00000350181.3:p.Tyr739Cys | |
| ENST00000397163.7:c.2234A>G | ENSP00000380349.3:p.Tyr745Cys | |
| ENST00000397200.8:c.698A>G | ENSP00000380384.4:p.Tyr233Cys | |
| ENST00000397204.8:c.239A>G | ENSP00000380387.4:p.Tyr80Cys | |
| ENST00000466222.6:n.1157A>G | ||
| ENST00000561817.5:c.239A>G | ENSP00000456575.1:p.Tyr80Cys | |
| ENST00000562199.1:n.238A>G | ||
| ENST00000564503.5:c.282-5A>G | ||
| ENST00000565274.5:c.417-5A>G | ENSP00000457759.1:n.417-5A>G | |
| ENST00000565559.5:c.416A>G | ENSP00000457878.1:p.Tyr139Cys | |
| ENST00000567817.5:c.50A>G | ENSP00000456514.1:p.Tyr17Cys | |
| ENST00000569136.5:c.239A>G | ENSP00000455254.1:p.Tyr80Cys | |
| ENST00000569827.5:c.566A>G | ENSP00000454379.1:p.Tyr189Cys | |
| NM_000070.2:c.2234A>G | NP_000061.1:p.Tyr745Cys | |
| NM_024344.1:c.2216A>G | NP_077320.1:p.Tyr739Cys | |
| NM_173087.1:c.1958A>G | NP_775110.1:p.Tyr653Cys | |
| NM_173088.1:c.698A>G | NP_775111.1:p.Tyr233Cys | |
| NM_173089.1:c.239A>G | NP_775112.1:p.Tyr80Cys | |
| NM_173090.1:c.239A>G | NP_775113.1:p.Tyr80Cys | |
| NM_000070.3:c.2234A>G MANE Select | NP_000061.1:p.Tyr745Cys | |
| NM_024344.2:c.2216A>G | NP_077320.1:p.Tyr739Cys | |
| NM_173087.2:c.1958A>G | NP_775110.1:p.Tyr653Cys | |
| NM_173088.2:c.698A>G | NP_775111.1:p.Tyr233Cys | |
| NM_173089.2:c.239A>G | NP_775112.1:p.Tyr80Cys | |
| NM_173090.2:c.239A>G | NP_775113.1:p.Tyr80Cys |