Revel Score:
ENST00000389817 (MANE Select)
0.983
ENST00000302539
0.983
ENST00000379493
0.983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17414591A>C , CM000673.2:g.17414591A>C | GRCh38 |
| NC_000011.9:g.17436138A>C , CM000673.1:g.17436138A>C | GRCh37 |
| NC_000011.8:g.17392714A>C | NCBI36 |
| NG_008867.1:g.67312T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1980T>G | ||
| ENST00000529967.6:n.570T>G | ||
| ENST00000642611.2:n.2380T>G | ||
| ENST00000682051.1:n.2327T>G | ||
| ENST00000682110.1:n.2380T>G | ||
| ENST00000682140.1:c.2308T>G | ENSP00000507829.1:p.Tyr770Asp | |
| ENST00000682185.1:n.3616T>G | ||
| ENST00000682204.1:c.*449T>G | ENSP00000507094.1:n.*449T>G | |
| ENST00000682215.1:n.2377T>G | ||
| ENST00000682288.1:c.*742T>G | ENSP00000507506.1:n.*742T>G | |
| ENST00000682442.1:n.2501T>G | ||
| ENST00000682528.1:n.2377T>G | ||
| ENST00000682673.1:n.2324T>G | ||
| ENST00000682805.1:n.2377T>G | ||
| ENST00000682965.1:c.2308T>G | ENSP00000508229.1:p.Tyr770Asp | |
| ENST00000683093.1:n.2479T>G | ||
| ENST00000683136.1:c.2308T>G | ENSP00000507768.1:p.Tyr770Asp | |
| ENST00000683153.1:n.2536T>G | ||
| ENST00000683365.1:n.2482T>G | ||
| ENST00000683377.1:n.2380T>G | ||
| ENST00000683456.1:c.2311T>G | ENSP00000508318.1:p.Tyr771Asp | |
| ENST00000683522.1:n.2380T>G | ||
| ENST00000683562.1:c.*480T>G | ENSP00000508265.1:n.*480T>G | |
| ENST00000683693.1:n.2377T>G | ||
| ENST00000683725.1:c.2311T>G | ENSP00000507496.1:p.Tyr771Asp | |
| ENST00000684010.1:n.2380T>G | ||
| ENST00000684157.1:n.2380T>G | ||
| ENST00000684253.1:n.2283T>G | ||
| ENST00000684288.1:c.*483T>G | ENSP00000507143.1:n.*483T>G | |
| ENST00000684313.1:n.1812T>G | ||
| ENST00000684332.1:n.2453T>G | ||
| ENST00000684371.1:n.2486T>G | ||
| ENST00000684404.1:n.2377T>G | ||
| ENST00000684442.1:n.2380T>G | ||
| ENST00000684555.1:c.*523T>G | ENSP00000507705.1:n.*523T>G | |
| ENST00000684571.1:c.2152T>G | ENSP00000506935.1:p.Tyr718Asp | |
| ENST00000684593.1:c.*2016T>G | ENSP00000507005.1:n.*2016T>G | |
| ENST00000684711.1:c.*707T>G | ENSP00000506841.1:n.*707T>G | |
| ENST00000302539.9:c.2314T>G | ENSP00000303960.4:p.Tyr772Asp | |
| ENST00000389817.8:c.2311T>G MANE Select | ENSP00000374467.4:p.Tyr771Asp | |
| ENST00000642271.1:c.2308T>G | ENSP00000493749.1:p.Tyr770Asp | |
| ENST00000642579.1:c.395T>G | ||
| ENST00000642611.1:n.2265T>G | ||
| ENST00000642902.1:c.2146T>G | ||
| ENST00000643260.1:c.2311T>G | ENSP00000494450.1:p.Tyr771Asp | |
| ENST00000643562.1:c.*287T>G | ENSP00000496124.1:n.*287T>G | |
| ENST00000643925.1:c.251T>G | ||
| ENST00000644447.1:c.667T>G | ENSP00000496282.1:p.Tyr223Asp | |
| ENST00000644472.1:c.*672T>G | ENSP00000495378.1:n.*672T>G | |
| ENST00000644484.1:c.*520T>G | ENSP00000493558.1:n.*520T>G | |
| ENST00000644542.1:c.*2016T>G | ENSP00000495532.1:n.*2016T>G | |
| ENST00000644675.1:c.*483T>G | ENSP00000494567.1:n.*483T>G | |
| ENST00000644757.1:c.*616T>G | ENSP00000495085.1:n.*616T>G | |
| ENST00000644772.1:c.2377T>G | ENSP00000494321.1:p.Tyr793Asp | |
| ENST00000645076.1:c.1563T>G | ||
| ENST00000645744.1:c.*675T>G | ENSP00000494564.1:n.*675T>G | |
| ENST00000645760.1:c.2586T>G | ||
| ENST00000645884.1:c.2311T>G | ENSP00000495516.1:p.Tyr771Asp | |
| ENST00000646003.1:c.*452T>G | ENSP00000495259.1:n.*452T>G | |
| ENST00000646207.1:c.*675T>G | ENSP00000495025.1:n.*675T>G | |
| ENST00000646276.1:c.*584T>G | ENSP00000496070.1:n.*584T>G | |
| ENST00000646592.1:c.1537T>G | ||
| ENST00000646902.1:c.2308T>G | ENSP00000494101.1:p.Tyr770Asp | |
| ENST00000646993.1:c.*707T>G | ENSP00000493720.1:n.*707T>G | |
| ENST00000647013.1:c.2317T>G | ENSP00000496741.1:n.2317T>G | |
| ENST00000647015.1:c.2062T>G | ENSP00000495389.1:p.Tyr688Asp | |
| ENST00000647086.1:c.*2041T>G | ENSP00000493677.1:n.*2041T>G | |
| ENST00000647158.1:c.*452T>G | ENSP00000495744.1:n.*452T>G | |
| ENST00000302539.8:c.2314T>G | ENSP00000303960.4:p.Tyr772Asp | |
| ENST00000389817.7:c.2311T>G | ENSP00000374467.3:p.Tyr771Asp | |
| ENST00000527905.5:c.2281T>G | ENSP00000431653.1:p.Tyr761Asp | |
| ENST00000531911.1:n.425T>G | ||
| NM_000352.4:c.2311T>G | NP_000343.2:p.Tyr771Asp | |
| NM_001287174.1:c.2314T>G | NP_001274103.1:p.Tyr772Asp | |
| XM_011520331.1:c.2311T>G | XP_011518633.1:p.Tyr771Asp | |
| XM_011520332.1:c.2314T>G | XP_011518634.1:p.Tyr772Asp | |
| XM_011520333.1:c.811T>G | XP_011518635.1:p.Tyr271Asp | |
| XM_011520334.1:c.2314T>G | XP_011518636.1:p.Tyr772Asp | |
| XR_930890.1:n.2377T>G | ||
| XR_930891.1:n.2377T>G | ||
| XR_930892.1:n.2377T>G | ||
| XR_930893.1:n.2374T>G | ||
| NM_001351295.1:c.2377T>G | NP_001338224.1:p.Tyr793Asp | |
| NM_001351296.1:c.2311T>G | NP_001338225.1:p.Tyr771Asp | |
| NM_001351297.1:c.2308T>G | NP_001338226.1:p.Tyr770Asp | |
| NR_147094.1:n.2380T>G | ||
| XM_017018197.2:c.2380T>G | XP_016873686.1:p.Tyr794Asp | |
| XM_017018199.1:c.2377T>G | XP_016873688.1:p.Tyr793Asp | |
| XM_017018201.2:c.2380T>G | XP_016873690.1:p.Tyr794Asp | |
| XM_017018202.1:c.877T>G | XP_016873691.1:p.Tyr293Asp | |
| XM_017018204.1:c.268T>G | XP_016873693.1:p.Tyr90Asp | |
| XM_024448668.1:c.679T>G | XP_024304436.1:p.Tyr227Asp | |
| XR_001747945.2:n.2452T>G | ||
| XR_001747946.2:n.2383T>G | ||
| XR_002957189.1:n.2452T>G | ||
| NM_000352.6:c.2311T>G MANE Select | NP_000343.2:p.Tyr771Asp | |
| NM_001287174.2:c.2314T>G | NP_001274103.1:p.Tyr772Asp | |
| NM_001351295.2:c.2377T>G | NP_001338224.1:p.Tyr793Asp | |
| NM_001351296.2:c.2311T>G | NP_001338225.1:p.Tyr771Asp | |
| NM_001351297.2:c.2308T>G | NP_001338226.1:p.Tyr770Asp | |
| NR_147094.2:n.2380T>G | ||
| NM_001287174.3:c.2314T>G | NP_001274103.1:p.Tyr772Asp |