Revel Score:
ENST00000389817 (MANE Select)
0.976
ENST00000302539
0.976
ENST00000379493
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17414590T>G , CM000673.2:g.17414590T>G | GRCh38 |
| NC_000011.9:g.17436137T>G , CM000673.1:g.17436137T>G | GRCh37 |
| NC_000011.8:g.17392713T>G | NCBI36 |
| NG_008867.1:g.67313A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1981A>C | ||
| ENST00000529967.6:n.571A>C | ||
| ENST00000642611.2:n.2381A>C | ||
| ENST00000682051.1:n.2328A>C | ||
| ENST00000682110.1:n.2381A>C | ||
| ENST00000682140.1:c.2309A>C | ENSP00000507829.1:p.Tyr770Ser | |
| ENST00000682185.1:n.3617A>C | ||
| ENST00000682204.1:c.*450A>C | ENSP00000507094.1:n.*450A>C | |
| ENST00000682215.1:n.2378A>C | ||
| ENST00000682288.1:c.*743A>C | ENSP00000507506.1:n.*743A>C | |
| ENST00000682442.1:n.2502A>C | ||
| ENST00000682528.1:n.2378A>C | ||
| ENST00000682673.1:n.2325A>C | ||
| ENST00000682805.1:n.2378A>C | ||
| ENST00000682965.1:c.2309A>C | ENSP00000508229.1:p.Tyr770Ser | |
| ENST00000683093.1:n.2480A>C | ||
| ENST00000683136.1:c.2309A>C | ENSP00000507768.1:p.Tyr770Ser | |
| ENST00000683153.1:n.2537A>C | ||
| ENST00000683365.1:n.2483A>C | ||
| ENST00000683377.1:n.2381A>C | ||
| ENST00000683456.1:c.2312A>C | ENSP00000508318.1:p.Tyr771Ser | |
| ENST00000683522.1:n.2381A>C | ||
| ENST00000683562.1:c.*481A>C | ENSP00000508265.1:n.*481A>C | |
| ENST00000683693.1:n.2378A>C | ||
| ENST00000683725.1:c.2312A>C | ENSP00000507496.1:p.Tyr771Ser | |
| ENST00000684010.1:n.2381A>C | ||
| ENST00000684157.1:n.2381A>C | ||
| ENST00000684253.1:n.2284A>C | ||
| ENST00000684288.1:c.*484A>C | ENSP00000507143.1:n.*484A>C | |
| ENST00000684313.1:n.1813A>C | ||
| ENST00000684332.1:n.2454A>C | ||
| ENST00000684371.1:n.2487A>C | ||
| ENST00000684404.1:n.2378A>C | ||
| ENST00000684442.1:n.2381A>C | ||
| ENST00000684555.1:c.*524A>C | ENSP00000507705.1:n.*524A>C | |
| ENST00000684571.1:c.2153A>C | ENSP00000506935.1:p.Tyr718Ser | |
| ENST00000684593.1:c.*2017A>C | ENSP00000507005.1:n.*2017A>C | |
| ENST00000684711.1:c.*708A>C | ENSP00000506841.1:n.*708A>C | |
| ENST00000302539.9:c.2315A>C | ENSP00000303960.4:p.Tyr772Ser | |
| ENST00000389817.8:c.2312A>C MANE Select | ENSP00000374467.4:p.Tyr771Ser | |
| ENST00000642271.1:c.2309A>C | ENSP00000493749.1:p.Tyr770Ser | |
| ENST00000642579.1:c.396A>C | ||
| ENST00000642611.1:n.2266A>C | ||
| ENST00000642902.1:c.2147A>C | ||
| ENST00000643260.1:c.2312A>C | ENSP00000494450.1:p.Tyr771Ser | |
| ENST00000643562.1:c.*288A>C | ENSP00000496124.1:n.*288A>C | |
| ENST00000643925.1:c.252A>C | ||
| ENST00000644447.1:c.668A>C | ENSP00000496282.1:p.Tyr223Ser | |
| ENST00000644472.1:c.*673A>C | ENSP00000495378.1:n.*673A>C | |
| ENST00000644484.1:c.*521A>C | ENSP00000493558.1:n.*521A>C | |
| ENST00000644542.1:c.*2017A>C | ENSP00000495532.1:n.*2017A>C | |
| ENST00000644675.1:c.*484A>C | ENSP00000494567.1:n.*484A>C | |
| ENST00000644757.1:c.*617A>C | ENSP00000495085.1:n.*617A>C | |
| ENST00000644772.1:c.2378A>C | ENSP00000494321.1:p.Tyr793Ser | |
| ENST00000645076.1:c.1564A>C | ||
| ENST00000645744.1:c.*676A>C | ENSP00000494564.1:n.*676A>C | |
| ENST00000645760.1:c.2587A>C | ||
| ENST00000645884.1:c.2312A>C | ENSP00000495516.1:p.Tyr771Ser | |
| ENST00000646003.1:c.*453A>C | ENSP00000495259.1:n.*453A>C | |
| ENST00000646207.1:c.*676A>C | ENSP00000495025.1:n.*676A>C | |
| ENST00000646276.1:c.*585A>C | ENSP00000496070.1:n.*585A>C | |
| ENST00000646592.1:c.1538A>C | ||
| ENST00000646902.1:c.2309A>C | ENSP00000494101.1:p.Tyr770Ser | |
| ENST00000646993.1:c.*708A>C | ENSP00000493720.1:n.*708A>C | |
| ENST00000647013.1:c.2318A>C | ENSP00000496741.1:n.2318A>C | |
| ENST00000647015.1:c.2063A>C | ENSP00000495389.1:p.Tyr688Ser | |
| ENST00000647086.1:c.*2042A>C | ENSP00000493677.1:n.*2042A>C | |
| ENST00000647158.1:c.*453A>C | ENSP00000495744.1:n.*453A>C | |
| ENST00000302539.8:c.2315A>C | ENSP00000303960.4:p.Tyr772Ser | |
| ENST00000389817.7:c.2312A>C | ENSP00000374467.3:p.Tyr771Ser | |
| ENST00000527905.5:c.2282A>C | ENSP00000431653.1:p.Tyr761Ser | |
| ENST00000531911.1:n.426A>C | ||
| NM_000352.4:c.2312A>C | NP_000343.2:p.Tyr771Ser | |
| NM_001287174.1:c.2315A>C | NP_001274103.1:p.Tyr772Ser | |
| XM_011520331.1:c.2312A>C | XP_011518633.1:p.Tyr771Ser | |
| XM_011520332.1:c.2315A>C | XP_011518634.1:p.Tyr772Ser | |
| XM_011520333.1:c.812A>C | XP_011518635.1:p.Tyr271Ser | |
| XM_011520334.1:c.2315A>C | XP_011518636.1:p.Tyr772Ser | |
| XR_930890.1:n.2378A>C | ||
| XR_930891.1:n.2378A>C | ||
| XR_930892.1:n.2378A>C | ||
| XR_930893.1:n.2375A>C | ||
| NM_001351295.1:c.2378A>C | NP_001338224.1:p.Tyr793Ser | |
| NM_001351296.1:c.2312A>C | NP_001338225.1:p.Tyr771Ser | |
| NM_001351297.1:c.2309A>C | NP_001338226.1:p.Tyr770Ser | |
| NR_147094.1:n.2381A>C | ||
| XM_017018197.2:c.2381A>C | XP_016873686.1:p.Tyr794Ser | |
| XM_017018199.1:c.2378A>C | XP_016873688.1:p.Tyr793Ser | |
| XM_017018201.2:c.2381A>C | XP_016873690.1:p.Tyr794Ser | |
| XM_017018202.1:c.878A>C | XP_016873691.1:p.Tyr293Ser | |
| XM_017018204.1:c.269A>C | XP_016873693.1:p.Tyr90Ser | |
| XM_024448668.1:c.680A>C | XP_024304436.1:p.Tyr227Ser | |
| XR_001747945.2:n.2453A>C | ||
| XR_001747946.2:n.2384A>C | ||
| XR_002957189.1:n.2453A>C | ||
| NM_000352.6:c.2312A>C MANE Select | NP_000343.2:p.Tyr771Ser | |
| NM_001287174.2:c.2315A>C | NP_001274103.1:p.Tyr772Ser | |
| NM_001351295.2:c.2378A>C | NP_001338224.1:p.Tyr793Ser | |
| NM_001351296.2:c.2312A>C | NP_001338225.1:p.Tyr771Ser | |
| NM_001351297.2:c.2309A>C | NP_001338226.1:p.Tyr770Ser | |
| NR_147094.2:n.2381A>C | ||
| NM_001287174.3:c.2315A>C | NP_001274103.1:p.Tyr772Ser |