Revel Score:
ENST00000389817 (MANE Select)
0.905
ENST00000302539
0.905
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404518G>A , CM000673.2:g.17404518G>A | GRCh38 |
| NC_000011.9:g.17426065G>A , CM000673.1:g.17426065G>A | GRCh37 |
| NC_000011.8:g.17382641G>A | NCBI36 |
| NG_008867.1:g.77385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3120C>T | ||
| ENST00000528374.2:c.130C>T | ||
| ENST00000529967.6:n.1890C>T | ||
| ENST00000532220.2:n.1283C>T | ||
| ENST00000642611.2:n.3620C>T | ||
| ENST00000645004.2:n.1050C>T | ||
| ENST00000682051.1:n.3567C>T | ||
| ENST00000682110.1:n.3620C>T | ||
| ENST00000682140.1:c.3548C>T | ENSP00000507829.1:p.Ala1183Val | |
| ENST00000682185.1:n.4856C>T | ||
| ENST00000682204.1:c.*1689C>T | ENSP00000507094.1:n.*1689C>T | |
| ENST00000682215.1:n.3617C>T | ||
| ENST00000682288.1:c.*1982C>T | ENSP00000507506.1:n.*1982C>T | |
| ENST00000682442.1:n.3840C>T | ||
| ENST00000682528.1:n.3697C>T | ||
| ENST00000682673.1:n.3564C>T | ||
| ENST00000682805.1:n.3617C>T | ||
| ENST00000682965.1:c.3396+976C>T | ENSP00000508229.1:n.3396+976C>T | |
| ENST00000683093.1:n.3719C>T | ||
| ENST00000683136.1:c.3548C>T | ENSP00000507768.1:p.Ala1183Val | |
| ENST00000683153.1:n.3776C>T | ||
| ENST00000683365.1:n.3722C>T | ||
| ENST00000683377.1:n.3620C>T | ||
| ENST00000683456.1:c.*688C>T | ENSP00000508318.1:n.*688C>T | |
| ENST00000683522.1:n.3620C>T | ||
| ENST00000683562.1:c.*1720C>T | ENSP00000508265.1:n.*1720C>T | |
| ENST00000683693.1:n.3697C>T | ||
| ENST00000683725.1:c.3551C>T | ENSP00000507496.1:p.Ala1184Val | |
| ENST00000684010.1:n.3615C>T | ||
| ENST00000684157.1:n.3620C>T | ||
| ENST00000684253.1:n.3523C>T | ||
| ENST00000684288.1:c.*1723C>T | ENSP00000507143.1:n.*1723C>T | |
| ENST00000684313.1:n.3052C>T | ||
| ENST00000684332.1:n.3693C>T | ||
| ENST00000684371.1:n.3726C>T | ||
| ENST00000684404.1:n.3663C>T | ||
| ENST00000684442.1:n.3620C>T | ||
| ENST00000684555.1:c.*1763C>T | ENSP00000507705.1:n.*1763C>T | |
| ENST00000684571.1:c.3392C>T | ENSP00000506935.1:p.Ala1131Val | |
| ENST00000684593.1:c.*3256C>T | ENSP00000507005.1:n.*3256C>T | |
| ENST00000684711.1:c.*1947C>T | ENSP00000506841.1:n.*1947C>T | |
| ENST00000302539.9:c.3554C>T | ENSP00000303960.4:p.Ala1185Val | |
| ENST00000389817.8:c.3551C>T MANE Select | ENSP00000374467.4:p.Ala1184Val | |
| ENST00000642271.1:c.3548C>T | ENSP00000493749.1:p.Ala1183Val | |
| ENST00000642579.1:c.1635C>T | ||
| ENST00000642611.1:n.3505C>T | ||
| ENST00000642902.1:c.3333C>T | ||
| ENST00000643260.1:c.3551C>T | ENSP00000494450.1:p.Ala1184Val | |
| ENST00000643562.1:c.*1527C>T | ENSP00000496124.1:n.*1527C>T | |
| ENST00000643925.1:c.1675C>T | ||
| ENST00000644447.1:c.1907C>T | ENSP00000496282.1:p.Ala636Val | |
| ENST00000644484.1:c.*1806C>T | ENSP00000493558.1:n.*1806C>T | |
| ENST00000644675.1:c.*1723C>T | ENSP00000494567.1:n.*1723C>T | |
| ENST00000644757.1:c.*1836C>T | ENSP00000495085.1:n.*1836C>T | |
| ENST00000644772.1:c.3617C>T | ENSP00000494321.1:p.Ala1206Val | |
| ENST00000645004.1:n.690C>T | ||
| ENST00000645076.1:c.2750C>T | ||
| ENST00000645417.1:c.717C>T | ||
| ENST00000645744.1:c.*1815C>T | ENSP00000494564.1:n.*1815C>T | |
| ENST00000645760.1:c.3826C>T | ||
| ENST00000645884.1:c.*688C>T | ENSP00000495516.1:n.*688C>T | |
| ENST00000646003.1:c.*1507C>T | ENSP00000495259.1:n.*1507C>T | |
| ENST00000646207.1:c.*2018C>T | ENSP00000495025.1:n.*2018C>T | |
| ENST00000646276.1:c.*1824C>T | ENSP00000496070.1:n.*1824C>T | |
| ENST00000646592.1:c.2857C>T | ||
| ENST00000646902.1:c.3548C>T | ENSP00000494101.1:p.Ala1183Val | |
| ENST00000646993.1:c.*1947C>T | ENSP00000493720.1:n.*1947C>T | |
| ENST00000647013.1:c.3557C>T | ENSP00000496741.1:n.3557C>T | |
| ENST00000647015.1:c.3302C>T | ENSP00000495389.1:p.Ala1101Val | |
| ENST00000647086.1:c.*3281C>T | ENSP00000493677.1:n.*3281C>T | |
| ENST00000647158.1:c.*1692C>T | ENSP00000495744.1:n.*1692C>T | |
| ENST00000302539.8:c.3554C>T | ENSP00000303960.4:p.Ala1185Val | |
| ENST00000389817.7:c.3551C>T | ENSP00000374467.3:p.Ala1184Val | |
| ENST00000524561.1:n.683C>T | ||
| ENST00000527905.5:c.*427C>T | ENSP00000431653.1:n.*427C>T | |
| ENST00000528374.1:c.21C>T | ||
| ENST00000531137.1:n.44C>T | ||
| NM_000352.4:c.3551C>T | NP_000343.2:p.Ala1184Val | |
| NM_001287174.1:c.3554C>T | NP_001274103.1:p.Ala1185Val | |
| XM_011520331.1:c.3551C>T | XP_011518633.1:p.Ala1184Val | |
| XM_011520332.1:c.3554C>T | XP_011518634.1:p.Ala1185Val | |
| XM_011520333.1:c.2051C>T | XP_011518635.1:p.Ala684Val | |
| XR_930890.1:n.3617C>T | ||
| XR_930892.1:n.3517C>T | ||
| XR_930893.1:n.3514C>T | ||
| NM_001351295.1:c.3617C>T | NP_001338224.1:p.Ala1206Val | |
| NM_001351296.1:c.3551C>T | NP_001338225.1:p.Ala1184Val | |
| NM_001351297.1:c.3548C>T | NP_001338226.1:p.Ala1183Val | |
| NR_147094.1:n.3700C>T | ||
| XM_017018197.2:c.3620C>T | XP_016873686.1:p.Ala1207Val | |
| XM_017018199.1:c.3617C>T | XP_016873688.1:p.Ala1206Val | |
| XM_017018201.2:c.3620C>T | XP_016873690.1:p.Ala1207Val | |
| XM_017018202.1:c.2117C>T | XP_016873691.1:p.Ala706Val | |
| XM_017018204.1:c.1508C>T | XP_016873693.1:p.Ala503Val | |
| XM_024448668.1:c.1919C>T | XP_024304436.1:p.Ala640Val | |
| XR_001747945.2:n.3692C>T | ||
| XR_001747946.2:n.3623C>T | ||
| XR_002957189.1:n.3772C>T | ||
| NM_000352.6:c.3551C>T MANE Select | NP_000343.2:p.Ala1184Val | |
| NM_001287174.2:c.3554C>T | NP_001274103.1:p.Ala1185Val | |
| NM_001351295.2:c.3617C>T | NP_001338224.1:p.Ala1206Val | |
| NM_001351296.2:c.3551C>T | NP_001338225.1:p.Ala1184Val | |
| NM_001351297.2:c.3548C>T | NP_001338226.1:p.Ala1183Val | |
| NR_147094.2:n.3700C>T | ||
| NM_001287174.3:c.3554C>T | NP_001274103.1:p.Ala1185Val |