Linked Data
dbSNP Id:
rs369681363
ExAC:
11:17415847 A / T
gnomAD v2:
11-17415847-A-T
gnomAD v3:
11-17394300-A-T
gnomAD v4:
11-17394300-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394300A>T , CM000673.2:g.17394300A>T | GRCh38 |
| NC_000011.9:g.17415847A>T , CM000673.1:g.17415847A>T | GRCh37 |
| NC_000011.8:g.17372423A>T | NCBI36 |
| NG_008867.1:g.87603T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4112T>A | ||
| ENST00000526037.6:n.446T>A | ||
| ENST00000528374.2:c.1102T>A | ||
| ENST00000529967.6:n.2850T>A | ||
| ENST00000532220.2:n.3744T>A | ||
| ENST00000642611.2:n.5844T>A | ||
| ENST00000644057.2:n.1087T>A | ||
| ENST00000645004.2:n.2010T>A | ||
| ENST00000682051.1:n.4673T>A | ||
| ENST00000682110.1:n.4726T>A | ||
| ENST00000682140.1:c.*297T>A | ENSP00000507829.1:n.*297T>A | |
| ENST00000682185.1:n.5816T>A | ||
| ENST00000682204.1:c.*2649T>A | ENSP00000507094.1:n.*2649T>A | |
| ENST00000682215.1:n.5093T>A | ||
| ENST00000682288.1:c.*2942T>A | ENSP00000507506.1:n.*2942T>A | |
| ENST00000682442.1:n.4946T>A | ||
| ENST00000682528.1:n.4803T>A | ||
| ENST00000682673.1:n.4670T>A | ||
| ENST00000682805.1:n.5131T>A | ||
| ENST00000682965.1:c.*933T>A | ENSP00000508229.1:n.*933T>A | |
| ENST00000683093.1:n.5706T>A | ||
| ENST00000683136.1:c.4394T>A | ENSP00000507768.1:p.Met1465Lys | |
| ENST00000683153.1:n.4768T>A | ||
| ENST00000683365.1:n.4828T>A | ||
| ENST00000683377.1:n.4622T>A | ||
| ENST00000683456.1:c.*1648T>A | ENSP00000508318.1:n.*1648T>A | |
| ENST00000683522.1:n.4808T>A | ||
| ENST00000683562.1:c.*2576T>A | ENSP00000508265.1:n.*2576T>A | |
| ENST00000683693.1:n.6187T>A | ||
| ENST00000683725.1:c.4407T>A | ENSP00000507496.1:p.His1469Gln | |
| ENST00000684010.1:n.4721T>A | ||
| ENST00000684014.1:n.698T>A | ||
| ENST00000684157.1:n.5711T>A | ||
| ENST00000684253.1:n.4629T>A | ||
| ENST00000684288.1:c.*2683T>A | ENSP00000507143.1:n.*2683T>A | |
| ENST00000684313.1:n.4158T>A | ||
| ENST00000684332.1:n.4799T>A | ||
| ENST00000684371.1:n.4832T>A | ||
| ENST00000684404.1:n.5754T>A | ||
| ENST00000684442.1:n.4950T>A | ||
| ENST00000684555.1:c.*2723T>A | ENSP00000507705.1:n.*2723T>A | |
| ENST00000684571.1:c.4352T>A | ENSP00000506935.1:p.Met1451Lys | |
| ENST00000684593.1:c.*4216T>A | ENSP00000507005.1:n.*4216T>A | |
| ENST00000684711.1:c.*2907T>A | ENSP00000506841.1:n.*2907T>A | |
| ENST00000302539.9:c.4514T>A | ENSP00000303960.4:p.Met1505Lys | |
| ENST00000389817.8:c.4511T>A MANE Select | ENSP00000374467.4:p.Met1504Lys | |
| ENST00000642271.1:c.4508T>A | ENSP00000493749.1:p.Met1503Lys | |
| ENST00000642579.1:c.2565T>A | ||
| ENST00000642611.1:n.5729T>A | ||
| ENST00000642902.1:c.4293T>A | ||
| ENST00000643260.1:c.4511T>A | ENSP00000494450.1:p.Met1504Lys | |
| ENST00000643562.1:c.*2633T>A | ENSP00000496124.1:n.*2633T>A | |
| ENST00000643925.1:c.3151T>A | ||
| ENST00000644057.1:n.670T>A | ||
| ENST00000644484.1:c.*3897T>A | ENSP00000493558.1:n.*3897T>A | |
| ENST00000644675.1:c.*2683T>A | ENSP00000494567.1:n.*2683T>A | |
| ENST00000644757.1:c.*3203-1320T>A | ENSP00000495085.1:n.*3203-1320T>A | |
| ENST00000644772.1:c.4577T>A | ENSP00000494321.1:p.Met1526Lys | |
| ENST00000645004.1:n.2204T>A | ||
| ENST00000645076.1:c.3606T>A | ||
| ENST00000645417.1:c.1699T>A | ||
| ENST00000645744.1:c.*4196T>A | ENSP00000494564.1:n.*4196T>A | |
| ENST00000645760.1:c.4932T>A | ||
| ENST00000645884.1:c.*1794T>A | ENSP00000495516.1:n.*1794T>A | |
| ENST00000646003.1:c.*2533T>A | ENSP00000495259.1:n.*2533T>A | |
| ENST00000646207.1:c.*3348T>A | ENSP00000495025.1:n.*3348T>A | |
| ENST00000646276.1:c.*3915T>A | ENSP00000496070.1:n.*3915T>A | |
| ENST00000646592.1:c.3817T>A | ||
| ENST00000646902.1:c.4478T>A | ENSP00000494101.1:p.Met1493Lys | |
| ENST00000646993.1:c.*2949T>A | ENSP00000493720.1:n.*2949T>A | |
| ENST00000647013.1:c.4517T>A | ENSP00000496741.1:n.4517T>A | |
| ENST00000647015.1:c.4262T>A | ENSP00000495389.1:p.Met1421Lys | |
| ENST00000647086.1:c.*4097T>A | ENSP00000493677.1:n.*4097T>A | |
| ENST00000647158.1:c.*2798T>A | ENSP00000495744.1:n.*2798T>A | |
| ENST00000302539.8:c.4514T>A | ENSP00000303960.4:p.Met1505Lys | |
| ENST00000389817.7:c.4511T>A | ENSP00000374467.3:p.Met1504Lys | |
| ENST00000525022.1:n.406T>A | ||
| ENST00000526037.5:n.271T>A | ||
| ENST00000526168.5:c.299T>A | ||
| ENST00000531642.5:c.542T>A | ||
| NM_000352.4:c.4511T>A | NP_000343.2:p.Met1504Lys | |
| NM_001287174.1:c.4514T>A | NP_001274103.1:p.Met1505Lys | |
| XM_011520331.1:c.4511T>A | XP_011518633.1:p.Met1504Lys | |
| XM_011520332.1:c.4410T>A | XP_011518634.1:p.His1470Gln | |
| XM_011520333.1:c.3011T>A | XP_011518635.1:p.Met1004Lys | |
| XR_930890.1:n.4473T>A | ||
| NM_001351295.1:c.4577T>A | NP_001338224.1:p.Met1526Lys | |
| NM_001351296.1:c.4511T>A | NP_001338225.1:p.Met1504Lys | |
| NM_001351297.1:c.4508T>A | NP_001338226.1:p.Met1503Lys | |
| NR_147094.1:n.4806T>A | ||
| XM_017018197.2:c.4580T>A | XP_016873686.1:p.Met1527Lys | |
| XM_017018199.1:c.4577T>A | XP_016873688.1:p.Met1526Lys | |
| XM_017018201.2:c.4476T>A | XP_016873690.1:p.His1492Gln | |
| XM_017018202.1:c.3077T>A | XP_016873691.1:p.Met1026Lys | |
| XM_017018204.1:c.2468T>A | XP_016873693.1:p.Met823Lys | |
| XM_024448668.1:c.2879T>A | XP_024304436.1:p.Met960Lys | |
| XR_001747945.2:n.4548T>A | ||
| XR_001747946.2:n.4479T>A | ||
| XR_002957189.1:n.6262T>A | ||
| NM_000352.6:c.4511T>A MANE Select | NP_000343.2:p.Met1504Lys | |
| NM_001287174.2:c.4514T>A | NP_001274103.1:p.Met1505Lys | |
| NM_001351295.2:c.4577T>A | NP_001338224.1:p.Met1526Lys | |
| NM_001351296.2:c.4511T>A | NP_001338225.1:p.Met1504Lys | |
| NM_001351297.2:c.4508T>A | NP_001338226.1:p.Met1503Lys | |
| NR_147094.2:n.4806T>A | ||
| NM_001287174.3:c.4514T>A | NP_001274103.1:p.Met1505Lys |