Revel Score:
ENST00000343574
0.553
ENST00000331340 (MANE Select)
0.553
ENST00000438033
0.553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50387384A>G , CM000669.2:g.50387384A>G | GRCh38 |
| NC_000007.13:g.50455082A>G , CM000669.1:g.50455082A>G | GRCh37 |
| NC_000007.12:g.50422576A>G | NCBI36 |
| NG_034231.1:g.88302A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642219.2:c.428A>G | ENSP00000496655.2:p.Tyr143Cys | |
| ENST00000698573.1:c.328+4677A>G | ENSP00000513804.1:n.328+4677A>G | |
| ENST00000698574.1:c.689A>G | ENSP00000513805.1:p.Tyr230Cys | |
| ENST00000698575.1:c.421+10591A>G | ENSP00000513806.1:n.421+10591A>G | |
| ENST00000331340.8:c.629A>G MANE Select | ENSP00000331614.3:p.Tyr210Cys | |
| ENST00000439701.2:c.590-4345A>G | ENSP00000413025.1:n.590-4345A>G | |
| ENST00000645066.1:c.329-4345A>G | ENSP00000494055.1:n.329-4345A>G | |
| ENST00000331340.7:c.629A>G | ENSP00000331614.3:p.Tyr210Cys | |
| ENST00000343574.9:c.368A>G | ENSP00000342750.5:p.Tyr123Cys | |
| ENST00000346667.8:c.41-12534A>G | ENSP00000340080.5:n.41-12534A>G | |
| ENST00000349824.8:c.421+10591A>G | ENSP00000342485.4:n.421+10591A>G | |
| ENST00000357364.8:c.589+4677A>G | ENSP00000349928.4:n.589+4677A>G | |
| ENST00000359197.9:c.590-4345A>G | ENSP00000352123.5:n.590-4345A>G | |
| ENST00000426121.1:c.110-12534A>G | ENSP00000409588.1:n.110-12534A>G | |
| ENST00000438033.5:c.368A>G | ENSP00000396554.1:p.Tyr123Cys | |
| ENST00000439701.1:c.590-4345A>G | ENSP00000413025.1:n.590-4345A>G | |
| ENST00000440768.6:c.41-4345A>G | ENSP00000401507.3:n.41-4345A>G | |
| ENST00000471793.1:n.848A>G | ||
| ENST00000612658.4:c.294+4771A>G | ENSP00000483016.1:n.294+4771A>G | |
| ENST00000615491.4:c.80A>G | ENSP00000478368.1:p.Tyr27Cys | |
| NM_001220765.2:c.590-4345A>G | NP_001207694.1:n.590-4345A>G | |
| NM_001220767.2:c.368A>G | NP_001207696.1:p.Tyr123Cys | |
| NM_001220768.2:c.589+4677A>G | NP_001207697.1:n.589+4677A>G | |
| NM_001220770.2:c.329-4345A>G | NP_001207699.1:n.329-4345A>G | |
| NM_001220771.2:c.421+10591A>G | NP_001207700.1:n.421+10591A>G | |
| NM_001291837.1:c.590-4345A>G | NP_001278766.1:n.590-4345A>G | |
| NM_001291838.1:c.368A>G | NP_001278767.1:p.Tyr123Cys | |
| NM_001291839.1:c.329-4345A>G | NP_001278768.1:n.329-4345A>G | |
| NM_001291840.1:c.161-12534A>G | NP_001278769.1:n.161-12534A>G | |
| NM_001291841.1:c.200A>G | NP_001278770.1:p.Tyr67Cys | |
| NM_001291842.1:c.200A>G | NP_001278771.1:p.Tyr67Cys | |
| NM_001291843.1:c.161-4345A>G | NP_001278772.1:n.161-4345A>G | |
| NM_001291844.1:c.161-4345A>G | NP_001278773.1:n.161-4345A>G | |
| NM_006060.5:c.629A>G | NP_006051.1:p.Tyr210Cys | |
| XM_011515058.1:c.761A>G | XP_011513360.1:p.Tyr254Cys | |
| XM_011515059.1:c.761A>G | XP_011513361.1:p.Tyr254Cys | |
| XM_011515060.1:c.719A>G | XP_011513362.1:p.Tyr240Cys | |
| XM_011515061.1:c.701A>G | XP_011513363.1:p.Tyr234Cys | |
| XM_011515062.1:c.689A>G | XP_011513364.1:p.Tyr230Cys | |
| XM_011515063.1:c.689A>G | XP_011513365.1:p.Tyr230Cys | |
| XM_011515064.1:c.689A>G | XP_011513366.1:p.Tyr230Cys | |
| XM_011515065.1:c.689A>G | XP_011513367.1:p.Tyr230Cys | |
| XM_011515066.1:c.689A>G | XP_011513368.1:p.Tyr230Cys | |
| XM_011515067.1:c.722-4345A>G | XP_011513369.1:n.722-4345A>G | |
| XM_011515068.1:c.629A>G | XP_011513370.1:p.Tyr210Cys | |
| XM_011515069.1:c.629A>G | XP_011513371.1:p.Tyr210Cys | |
| XM_011515070.1:c.662-4345A>G | XP_011513372.1:n.662-4345A>G | |
| XM_011515071.1:c.500A>G | XP_011513373.1:p.Tyr167Cys | |
| XM_011515072.1:c.440A>G | XP_011513374.1:p.Tyr147Cys | |
| XM_011515073.1:c.428A>G | XP_011513375.1:p.Tyr143Cys | |
| XM_011515074.1:c.440A>G | XP_011513376.1:p.Tyr147Cys | |
| XM_011515075.1:c.368A>G | XP_011513377.1:p.Tyr123Cys | |
| XM_011515076.1:c.368A>G | XP_011513378.1:p.Tyr123Cys | |
| XM_011515077.1:c.401-4345A>G | XP_011513379.1:n.401-4345A>G | |
| XM_011515078.1:c.401-4345A>G | XP_011513380.1:n.401-4345A>G | |
| XR_927257.1:n.5611+1100T>C | ||
| NM_006060.6:c.629A>G MANE Select | NP_006051.1:p.Tyr210Cys | |
| XM_011515058.2:c.761A>G | XP_011513360.1:p.Tyr254Cys | |
| XM_011515059.3:c.761A>G | XP_011513361.1:p.Tyr254Cys | |
| XM_011515060.2:c.719A>G | XP_011513362.1:p.Tyr240Cys | |
| XM_011515061.3:c.701A>G | XP_011513363.1:p.Tyr234Cys | |
| XM_011515062.2:c.689A>G | XP_011513364.1:p.Tyr230Cys | |
| XM_011515063.2:c.689A>G | XP_011513365.1:p.Tyr230Cys | |
| XM_011515064.3:c.689A>G | XP_011513366.1:p.Tyr230Cys | |
| XM_011515065.2:c.689A>G | XP_011513367.1:p.Tyr230Cys | |
| XM_011515066.2:c.689A>G | XP_011513368.1:p.Tyr230Cys | |
| XM_011515067.3:c.722-4345A>G | XP_011513369.1:n.722-4345A>G | |
| XM_011515068.2:c.629A>G | XP_011513370.1:p.Tyr210Cys | |
| XM_011515069.2:c.629A>G | XP_011513371.1:p.Tyr210Cys | |
| XM_011515070.2:c.662-4345A>G | XP_011513372.1:n.662-4345A>G | |
| XM_011515071.2:c.500A>G | XP_011513373.1:p.Tyr167Cys | |
| XM_011515072.2:c.440A>G | XP_011513374.1:p.Tyr147Cys | |
| XM_011515073.2:c.428A>G | XP_011513375.1:p.Tyr143Cys | |
| XM_011515074.2:c.440A>G | XP_011513376.1:p.Tyr147Cys | |
| XM_011515075.2:c.368A>G | XP_011513377.1:p.Tyr123Cys | |
| XM_011515076.2:c.368A>G | XP_011513378.1:p.Tyr123Cys | |
| XM_011515077.2:c.401-4345A>G | XP_011513379.1:n.401-4345A>G | |
| XM_011515078.2:c.401-4345A>G | XP_011513380.1:n.401-4345A>G | |
| XM_017011667.1:c.428A>G | XP_016867156.1:p.Tyr143Cys | |
| XM_017011668.1:c.368A>G | XP_016867157.1:p.Tyr123Cys | |
| XM_017011669.1:c.629A>G | XP_016867158.1:p.Tyr210Cys | |
| XM_017011670.1:c.629A>G | XP_016867159.1:p.Tyr210Cys | |
| NM_001220765.3:c.590-4345A>G | NP_001207694.1:n.590-4345A>G | |
| NM_001291837.2:c.590-4345A>G | NP_001278766.1:n.590-4345A>G | |
| NM_001291838.2:c.368A>G | NP_001278767.1:p.Tyr123Cys | |
| NM_001291839.2:c.329-4345A>G | NP_001278768.1:n.329-4345A>G |