Revel Score:
ENST00000434810
0.101
ENST00000456369
0.101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699885C>A , CM000684.2:g.28699885C>A | GRCh38 |
| NC_000022.10:g.29095873C>A , CM000684.1:g.29095873C>A | GRCh37 |
| NC_000022.9:g.27425873C>A | NCBI36 |
| NG_008150.1:g.46950G>T | |
| NG_008150.2:g.46982G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.870G>T | ENSP00000396903.2:n.870G>T | |
| ENST00000711048.1:c.961G>T | ENSP00000518557.1:p.Glu321Ter | |
| ENST00000402731.6:c.760G>T | ENSP00000384835.2:p.Glu254Ter | |
| ENST00000404276.6:c.961G>T MANE Select | ENSP00000385747.1:p.Glu321Ter | |
| ENST00000425190.7:c.298G>T | ENSP00000390244.2:p.Glu100Ter | |
| ENST00000464581.6:c.301G>T | ENSP00000483777.2:p.Glu101Ter | |
| ENST00000648295.1:n.513G>T | ||
| ENST00000649563.1:c.298G>T | ENSP00000496928.1:p.Glu100Ter | |
| ENST00000650281.1:c.961G>T | ENSP00000497000.1:p.Glu321Ter | |
| ENST00000328354.10:c.961G>T | ENSP00000329178.6:p.Glu321Ter | |
| ENST00000348295.7:c.961G>T | ENSP00000329012.5:p.Glu321Ter | |
| ENST00000382580.6:c.1090G>T | ENSP00000372023.2:p.Glu364Ter | |
| ENST00000402731.5:c.961G>T | ENSP00000384835.1:p.Glu321Ter | |
| ENST00000403642.5:c.688G>T | ENSP00000384919.1:p.Glu230Ter | |
| ENST00000404276.5:c.961G>T | ENSP00000385747.1:p.Glu321Ter | |
| ENST00000405598.5:c.961G>T | ENSP00000386087.1:p.Glu321Ter | |
| ENST00000416671.5:c.*451G>T | ENSP00000402225.1:n.*451G>T | |
| ENST00000417588.5:c.870G>T | ENSP00000412901.1:n.870G>T | |
| ENST00000425190.6:c.298G>T | ENSP00000390244.1:p.Glu100Ter | |
| ENST00000433028.6:c.*686G>T | ENSP00000403659.1:n.*686G>T | |
| ENST00000433728.5:c.899G>T | ENSP00000404400.1:n.899G>T | |
| ENST00000434810.5:c.192G>T | ||
| ENST00000439346.5:c.432G>T | ENSP00000396903.1:n.432G>T | |
| ENST00000447421.5:c.760G>T | ENSP00000397478.2:p.Glu254Ter | |
| ENST00000448511.5:c.851G>T | ENSP00000404567.1:n.851G>T | |
| ENST00000456369.5:c.216G>T | ||
| ENST00000464581.5:c.301G>T | ENSP00000483777.1:p.Glu101Ter | |
| ENST00000491919.5:n.518G>T | ||
| NM_001005735.1:c.1090G>T | NP_001005735.1:p.Glu364Ter | |
| NM_001257387.1:c.298G>T | NP_001244316.1:p.Glu100Ter | |
| NM_007194.3:c.961G>T | NP_009125.1:p.Glu321Ter | |
| NM_145862.2:c.961G>T | NP_665861.1:p.Glu321Ter | |
| XM_006724114.2:c.481G>T | XP_006724177.1:p.Glu161Ter | |
| XM_006724116.2:c.418G>T | XP_006724179.2:p.Glu140Ter | |
| XM_011529839.1:c.1120G>T | XP_011528141.1:p.Glu374Ter | |
| XM_011529840.1:c.1120G>T | XP_011528142.1:p.Glu374Ter | |
| XM_011529841.1:c.889G>T | XP_011528143.1:p.Glu297Ter | |
| XM_011529842.1:c.790G>T | XP_011528144.1:p.Glu264Ter | |
| XM_011529843.1:c.760G>T | XP_011528145.1:p.Glu254Ter | |
| XM_011529844.1:c.1120G>T | XP_011528146.1:p.Glu374Ter | |
| XM_011529845.1:c.298G>T | XP_011528147.1:p.Glu100Ter | |
| XR_937805.1:n.1120G>T | ||
| XR_937806.1:n.1115G>T | ||
| XR_937807.1:n.1115G>T | ||
| NM_001349956.1:c.760G>T | NP_001336885.1:p.Glu254Ter | |
| NM_007194.4:c.961G>T MANE Select | NP_009125.1:p.Glu321Ter | |
| XM_006724114.3:c.514G>T | XP_006724177.2:p.Glu172Ter | |
| XM_011529839.2:c.1120G>T | XP_011528141.1:p.Glu374Ter | |
| XM_011529840.3:c.1120G>T | XP_011528142.1:p.Glu374Ter | |
| XM_011529842.2:c.790G>T | XP_011528144.1:p.Glu264Ter | |
| XM_011529844.2:c.1120G>T | XP_011528146.1:p.Glu374Ter | |
| XM_011529845.2:c.298G>T | XP_011528147.1:p.Glu100Ter | |
| XM_017028560.1:c.1084G>T | XP_016884049.1:p.Glu362Ter | |
| XM_017028561.2:c.298G>T | XP_016884050.1:p.Glu100Ter | |
| XM_024452148.1:c.991G>T | XP_024307916.1:p.Glu331Ter | |
| XM_024452149.1:c.991G>T | XP_024307917.1:p.Glu331Ter | |
| XR_937805.2:n.1131G>T | ||
| XR_937806.2:n.1131G>T | ||
| XR_937807.2:n.1131G>T | ||
| NM_001005735.2:c.1090G>T | NP_001005735.1:p.Glu364Ter | |
| NM_001257387.2:c.298G>T | NP_001244316.1:p.Glu100Ter | |
| NM_001349956.2:c.760G>T | NP_001336885.1:p.Glu254Ter |