Linked Data
ClinVar Variation Id:
434053
dbSNP Id:
rs769518471
ExAC:
11:17428605 G / A
gnomAD v2:
11-17428605-G-A
gnomAD v3:
11-17407058-G-A
gnomAD v4:
11-17407058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17407058G>A , CM000673.2:g.17407058G>A | GRCh38 |
| NC_000011.9:g.17428605G>A , CM000673.1:g.17428605G>A | GRCh37 |
| NC_000011.8:g.17385181G>A | NCBI36 |
| NG_008867.1:g.74845C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2561C>T | ||
| ENST00000529967.6:n.1331C>T | ||
| ENST00000532220.2:n.724C>T | ||
| ENST00000642611.2:n.3061C>T | ||
| ENST00000645004.2:n.491C>T | ||
| ENST00000682051.1:n.3008C>T | ||
| ENST00000682110.1:n.3061C>T | ||
| ENST00000682140.1:c.2989C>T | ENSP00000507829.1:p.Arg997Ter | |
| ENST00000682185.1:n.4297C>T | ||
| ENST00000682204.1:c.*1130C>T | ENSP00000507094.1:n.*1130C>T | |
| ENST00000682215.1:n.3058C>T | ||
| ENST00000682288.1:c.*1423C>T | ENSP00000507506.1:n.*1423C>T | |
| ENST00000682442.1:n.3182C>T | ||
| ENST00000682528.1:n.3138C>T | ||
| ENST00000682673.1:n.3005C>T | ||
| ENST00000682805.1:n.3058C>T | ||
| ENST00000682965.1:c.2989C>T | ENSP00000508229.1:p.Arg997Ter | |
| ENST00000683093.1:n.3160C>T | ||
| ENST00000683136.1:c.2989C>T | ENSP00000507768.1:p.Arg997Ter | |
| ENST00000683153.1:n.3217C>T | ||
| ENST00000683365.1:n.3163C>T | ||
| ENST00000683377.1:n.3061C>T | ||
| ENST00000683456.1:c.*129C>T | ENSP00000508318.1:n.*129C>T | |
| ENST00000683522.1:n.3061C>T | ||
| ENST00000683562.1:c.*1161C>T | ENSP00000508265.1:n.*1161C>T | |
| ENST00000683693.1:n.3138C>T | ||
| ENST00000683725.1:c.2992C>T | ENSP00000507496.1:p.Arg998Ter | |
| ENST00000684010.1:n.3056C>T | ||
| ENST00000684157.1:n.3061C>T | ||
| ENST00000684253.1:n.2964C>T | ||
| ENST00000684288.1:c.*1164C>T | ENSP00000507143.1:n.*1164C>T | |
| ENST00000684313.1:n.2493C>T | ||
| ENST00000684332.1:n.3134C>T | ||
| ENST00000684371.1:n.3167C>T | ||
| ENST00000684404.1:n.3104C>T | ||
| ENST00000684442.1:n.3061C>T | ||
| ENST00000684555.1:c.*1204C>T | ENSP00000507705.1:n.*1204C>T | |
| ENST00000684571.1:c.2833C>T | ENSP00000506935.1:p.Arg945Ter | |
| ENST00000684593.1:c.*2697C>T | ENSP00000507005.1:n.*2697C>T | |
| ENST00000684711.1:c.*1388C>T | ENSP00000506841.1:n.*1388C>T | |
| ENST00000302539.9:c.2995C>T | ENSP00000303960.4:p.Arg999Ter | |
| ENST00000389817.8:c.2992C>T MANE Select | ENSP00000374467.4:p.Arg998Ter | |
| ENST00000642271.1:c.2989C>T | ENSP00000493749.1:p.Arg997Ter | |
| ENST00000642579.1:c.1076C>T | ||
| ENST00000642611.1:n.2946C>T | ||
| ENST00000642902.1:c.2774C>T | ||
| ENST00000643260.1:c.2992C>T | ENSP00000494450.1:p.Arg998Ter | |
| ENST00000643562.1:c.*968C>T | ENSP00000496124.1:n.*968C>T | |
| ENST00000643925.1:c.1116C>T | ||
| ENST00000644447.1:c.1348C>T | ENSP00000496282.1:p.Arg450Ter | |
| ENST00000644484.1:c.*1247C>T | ENSP00000493558.1:n.*1247C>T | |
| ENST00000644542.1:c.*2697C>T | ENSP00000495532.1:n.*2697C>T | |
| ENST00000644675.1:c.*1164C>T | ENSP00000494567.1:n.*1164C>T | |
| ENST00000644757.1:c.*1277C>T | ENSP00000495085.1:n.*1277C>T | |
| ENST00000644772.1:c.3058C>T | ENSP00000494321.1:p.Arg1020Ter | |
| ENST00000645004.1:n.131C>T | ||
| ENST00000645076.1:c.2191C>T | ||
| ENST00000645417.1:c.158C>T | ||
| ENST00000645744.1:c.*1256C>T | ENSP00000494564.1:n.*1256C>T | |
| ENST00000645760.1:c.3267C>T | ||
| ENST00000645884.1:c.*129C>T | ENSP00000495516.1:n.*129C>T | |
| ENST00000646003.1:c.*948C>T | ENSP00000495259.1:n.*948C>T | |
| ENST00000646207.1:c.*1459C>T | ENSP00000495025.1:n.*1459C>T | |
| ENST00000646276.1:c.*1265C>T | ENSP00000496070.1:n.*1265C>T | |
| ENST00000646592.1:c.2298C>T | ||
| ENST00000646902.1:c.2989C>T | ENSP00000494101.1:p.Arg997Ter | |
| ENST00000646993.1:c.*1388C>T | ENSP00000493720.1:n.*1388C>T | |
| ENST00000647013.1:c.2998C>T | ENSP00000496741.1:n.2998C>T | |
| ENST00000647015.1:c.2743C>T | ENSP00000495389.1:p.Arg915Ter | |
| ENST00000647086.1:c.*2722C>T | ENSP00000493677.1:n.*2722C>T | |
| ENST00000647158.1:c.*1133C>T | ENSP00000495744.1:n.*1133C>T | |
| ENST00000302539.8:c.2995C>T | ENSP00000303960.4:p.Arg999Ter | |
| ENST00000389817.7:c.2992C>T | ENSP00000374467.3:p.Arg998Ter | |
| ENST00000524561.1:n.124C>T | ||
| ENST00000526921.5:n.676C>T | ||
| ENST00000527905.5:c.2862C>T | ENSP00000431653.1:p.Gly954= | |
| ENST00000529967.5:n.661C>T | ||
| NM_000352.4:c.2992C>T | NP_000343.2:p.Arg998Ter | |
| NM_001287174.1:c.2995C>T | NP_001274103.1:p.Arg999Ter | |
| XM_011520331.1:c.2992C>T | XP_011518633.1:p.Arg998Ter | |
| XM_011520332.1:c.2995C>T | XP_011518634.1:p.Arg999Ter | |
| XM_011520333.1:c.1492C>T | XP_011518635.1:p.Arg498Ter | |
| XR_930890.1:n.3058C>T | ||
| XR_930891.1:n.3058C>T | ||
| XR_930892.1:n.2958C>T | ||
| XR_930893.1:n.2955C>T | ||
| NM_001351295.1:c.3058C>T | NP_001338224.1:p.Arg1020Ter | |
| NM_001351296.1:c.2992C>T | NP_001338225.1:p.Arg998Ter | |
| NM_001351297.1:c.2989C>T | NP_001338226.1:p.Arg997Ter | |
| NR_147094.1:n.3141C>T | ||
| XM_017018197.2:c.3061C>T | XP_016873686.1:p.Arg1021Ter | |
| XM_017018199.1:c.3058C>T | XP_016873688.1:p.Arg1020Ter | |
| XM_017018201.2:c.3061C>T | XP_016873690.1:p.Arg1021Ter | |
| XM_017018202.1:c.1558C>T | XP_016873691.1:p.Arg520Ter | |
| XM_017018204.1:c.949C>T | XP_016873693.1:p.Arg317Ter | |
| XM_024448668.1:c.1360C>T | XP_024304436.1:p.Arg454Ter | |
| XR_001747945.2:n.3133C>T | ||
| XR_001747946.2:n.3064C>T | ||
| XR_002957189.1:n.3213C>T | ||
| NM_000352.6:c.2992C>T MANE Select | NP_000343.2:p.Arg998Ter | |
| NM_001287174.2:c.2995C>T | NP_001274103.1:p.Arg999Ter | |
| NM_001351295.2:c.3058C>T | NP_001338224.1:p.Arg1020Ter | |
| NM_001351296.2:c.2992C>T | NP_001338225.1:p.Arg998Ter | |
| NM_001351297.2:c.2989C>T | NP_001338226.1:p.Arg997Ter | |
| NR_147094.2:n.3141C>T | ||
| NM_001287174.3:c.2995C>T | NP_001274103.1:p.Arg999Ter |