Revel Score:
ENST00000389817 (MANE Select)
0.950
ENST00000302539
0.950
ENST00000379493
0.950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17414596A>G , CM000673.2:g.17414596A>G | GRCh38 |
| NC_000011.9:g.17436143A>G , CM000673.1:g.17436143A>G | GRCh37 |
| NC_000011.8:g.17392719A>G | NCBI36 |
| NG_008867.1:g.67307T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1975T>C | ||
| ENST00000529967.6:n.565T>C | ||
| ENST00000642611.2:n.2375T>C | ||
| ENST00000682051.1:n.2322T>C | ||
| ENST00000682110.1:n.2375T>C | ||
| ENST00000682140.1:c.2303T>C | ENSP00000507829.1:p.Val768Ala | |
| ENST00000682185.1:n.3611T>C | ||
| ENST00000682204.1:c.*444T>C | ENSP00000507094.1:n.*444T>C | |
| ENST00000682215.1:n.2372T>C | ||
| ENST00000682288.1:c.*737T>C | ENSP00000507506.1:n.*737T>C | |
| ENST00000682442.1:n.2496T>C | ||
| ENST00000682528.1:n.2372T>C | ||
| ENST00000682673.1:n.2319T>C | ||
| ENST00000682805.1:n.2372T>C | ||
| ENST00000682965.1:c.2303T>C | ENSP00000508229.1:p.Val768Ala | |
| ENST00000683093.1:n.2474T>C | ||
| ENST00000683136.1:c.2303T>C | ENSP00000507768.1:p.Val768Ala | |
| ENST00000683153.1:n.2531T>C | ||
| ENST00000683365.1:n.2477T>C | ||
| ENST00000683377.1:n.2375T>C | ||
| ENST00000683456.1:c.2306T>C | ENSP00000508318.1:p.Val769Ala | |
| ENST00000683522.1:n.2375T>C | ||
| ENST00000683562.1:c.*475T>C | ENSP00000508265.1:n.*475T>C | |
| ENST00000683693.1:n.2372T>C | ||
| ENST00000683725.1:c.2306T>C | ENSP00000507496.1:p.Val769Ala | |
| ENST00000684010.1:n.2375T>C | ||
| ENST00000684157.1:n.2375T>C | ||
| ENST00000684253.1:n.2278T>C | ||
| ENST00000684288.1:c.*478T>C | ENSP00000507143.1:n.*478T>C | |
| ENST00000684313.1:n.1807T>C | ||
| ENST00000684332.1:n.2448T>C | ||
| ENST00000684371.1:n.2481T>C | ||
| ENST00000684404.1:n.2372T>C | ||
| ENST00000684442.1:n.2375T>C | ||
| ENST00000684555.1:c.*518T>C | ENSP00000507705.1:n.*518T>C | |
| ENST00000684571.1:c.2147T>C | ENSP00000506935.1:p.Val716Ala | |
| ENST00000684593.1:c.*2011T>C | ENSP00000507005.1:n.*2011T>C | |
| ENST00000684711.1:c.*702T>C | ENSP00000506841.1:n.*702T>C | |
| ENST00000302539.9:c.2309T>C | ENSP00000303960.4:p.Val770Ala | |
| ENST00000389817.8:c.2306T>C MANE Select | ENSP00000374467.4:p.Val769Ala | |
| ENST00000642271.1:c.2303T>C | ENSP00000493749.1:p.Val768Ala | |
| ENST00000642579.1:c.390T>C | ||
| ENST00000642611.1:n.2260T>C | ||
| ENST00000642902.1:c.2141T>C | ||
| ENST00000643260.1:c.2306T>C | ENSP00000494450.1:p.Val769Ala | |
| ENST00000643562.1:c.*282T>C | ENSP00000496124.1:n.*282T>C | |
| ENST00000643925.1:c.246T>C | ||
| ENST00000644447.1:c.662T>C | ENSP00000496282.1:p.Val221Ala | |
| ENST00000644472.1:c.*667T>C | ENSP00000495378.1:n.*667T>C | |
| ENST00000644484.1:c.*515T>C | ENSP00000493558.1:n.*515T>C | |
| ENST00000644542.1:c.*2011T>C | ENSP00000495532.1:n.*2011T>C | |
| ENST00000644675.1:c.*478T>C | ENSP00000494567.1:n.*478T>C | |
| ENST00000644757.1:c.*611T>C | ENSP00000495085.1:n.*611T>C | |
| ENST00000644772.1:c.2372T>C | ENSP00000494321.1:p.Val791Ala | |
| ENST00000645076.1:c.1558T>C | ||
| ENST00000645744.1:c.*670T>C | ENSP00000494564.1:n.*670T>C | |
| ENST00000645760.1:c.2581T>C | ||
| ENST00000645884.1:c.2306T>C | ENSP00000495516.1:p.Val769Ala | |
| ENST00000646003.1:c.*447T>C | ENSP00000495259.1:n.*447T>C | |
| ENST00000646207.1:c.*670T>C | ENSP00000495025.1:n.*670T>C | |
| ENST00000646276.1:c.*579T>C | ENSP00000496070.1:n.*579T>C | |
| ENST00000646592.1:c.1532T>C | ||
| ENST00000646902.1:c.2303T>C | ENSP00000494101.1:p.Val768Ala | |
| ENST00000646993.1:c.*702T>C | ENSP00000493720.1:n.*702T>C | |
| ENST00000647013.1:c.2312T>C | ENSP00000496741.1:n.2312T>C | |
| ENST00000647015.1:c.2057T>C | ENSP00000495389.1:p.Val686Ala | |
| ENST00000647086.1:c.*2036T>C | ENSP00000493677.1:n.*2036T>C | |
| ENST00000647158.1:c.*447T>C | ENSP00000495744.1:n.*447T>C | |
| ENST00000302539.8:c.2309T>C | ENSP00000303960.4:p.Val770Ala | |
| ENST00000389817.7:c.2306T>C | ENSP00000374467.3:p.Val769Ala | |
| ENST00000527905.5:c.2276T>C | ENSP00000431653.1:p.Val759Ala | |
| ENST00000531911.1:n.420T>C | ||
| NM_000352.4:c.2306T>C | NP_000343.2:p.Val769Ala | |
| NM_001287174.1:c.2309T>C | NP_001274103.1:p.Val770Ala | |
| XM_011520331.1:c.2306T>C | XP_011518633.1:p.Val769Ala | |
| XM_011520332.1:c.2309T>C | XP_011518634.1:p.Val770Ala | |
| XM_011520333.1:c.806T>C | XP_011518635.1:p.Val269Ala | |
| XM_011520334.1:c.2309T>C | XP_011518636.1:p.Val770Ala | |
| XR_930890.1:n.2372T>C | ||
| XR_930891.1:n.2372T>C | ||
| XR_930892.1:n.2372T>C | ||
| XR_930893.1:n.2369T>C | ||
| NM_001351295.1:c.2372T>C | NP_001338224.1:p.Val791Ala | |
| NM_001351296.1:c.2306T>C | NP_001338225.1:p.Val769Ala | |
| NM_001351297.1:c.2303T>C | NP_001338226.1:p.Val768Ala | |
| NR_147094.1:n.2375T>C | ||
| XM_017018197.2:c.2375T>C | XP_016873686.1:p.Val792Ala | |
| XM_017018199.1:c.2372T>C | XP_016873688.1:p.Val791Ala | |
| XM_017018201.2:c.2375T>C | XP_016873690.1:p.Val792Ala | |
| XM_017018202.1:c.872T>C | XP_016873691.1:p.Val291Ala | |
| XM_017018204.1:c.263T>C | XP_016873693.1:p.Val88Ala | |
| XM_024448668.1:c.674T>C | XP_024304436.1:p.Val225Ala | |
| XR_001747945.2:n.2447T>C | ||
| XR_001747946.2:n.2378T>C | ||
| XR_002957189.1:n.2447T>C | ||
| NM_000352.6:c.2306T>C MANE Select | NP_000343.2:p.Val769Ala | |
| NM_001287174.2:c.2309T>C | NP_001274103.1:p.Val770Ala | |
| NM_001351295.2:c.2372T>C | NP_001338224.1:p.Val791Ala | |
| NM_001351296.2:c.2306T>C | NP_001338225.1:p.Val769Ala | |
| NM_001351297.2:c.2303T>C | NP_001338226.1:p.Val768Ala | |
| NR_147094.2:n.2375T>C | ||
| NM_001287174.3:c.2309T>C | NP_001274103.1:p.Val770Ala |