Linked Data
dbSNP Id:
rs762499123
ExAC:
11:17418517 G / A
gnomAD v2:
11-17418517-G-A
gnomAD v4:
11-17396970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396970G>A , CM000673.2:g.17396970G>A | GRCh38 |
| NC_000011.9:g.17418517G>A , CM000673.1:g.17418517G>A | GRCh37 |
| NC_000011.8:g.17375093G>A | NCBI36 |
| NG_008867.1:g.84933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3666C>T | ||
| ENST00000528374.2:c.656C>T | ||
| ENST00000529967.6:n.2404C>T | ||
| ENST00000532220.2:n.2313C>T | ||
| ENST00000642611.2:n.4280C>T | ||
| ENST00000644057.2:n.508C>T | ||
| ENST00000645004.2:n.1564C>T | ||
| ENST00000682051.1:n.4227C>T | ||
| ENST00000682110.1:n.4280C>T | ||
| ENST00000682140.1:c.3985+223C>T | ENSP00000507829.1:n.3985+223C>T | |
| ENST00000682185.1:n.5370C>T | ||
| ENST00000682204.1:c.*2203C>T | ENSP00000507094.1:n.*2203C>T | |
| ENST00000682215.1:n.4647C>T | ||
| ENST00000682288.1:c.*2496C>T | ENSP00000507506.1:n.*2496C>T | |
| ENST00000682442.1:n.4500C>T | ||
| ENST00000682528.1:n.4357C>T | ||
| ENST00000682673.1:n.4224C>T | ||
| ENST00000682805.1:n.4647C>T | ||
| ENST00000682965.1:c.*487C>T | ENSP00000508229.1:n.*487C>T | |
| ENST00000683093.1:n.4379C>T | ||
| ENST00000683136.1:c.3948C>T | ENSP00000507768.1:p.Ser1316= | |
| ENST00000683153.1:n.4322C>T | ||
| ENST00000683365.1:n.4382C>T | ||
| ENST00000683377.1:n.4280C>T | ||
| ENST00000683456.1:c.*1202C>T | ENSP00000508318.1:n.*1202C>T | |
| ENST00000683522.1:n.4280C>T | ||
| ENST00000683562.1:c.*2234C>T | ENSP00000508265.1:n.*2234C>T | |
| ENST00000683693.1:n.4727C>T | ||
| ENST00000683725.1:c.4065C>T | ENSP00000507496.1:p.Ser1355= | |
| ENST00000684010.1:n.4275C>T | ||
| ENST00000684157.1:n.4280C>T | ||
| ENST00000684253.1:n.4183C>T | ||
| ENST00000684288.1:c.*2237C>T | ENSP00000507143.1:n.*2237C>T | |
| ENST00000684313.1:n.3712C>T | ||
| ENST00000684332.1:n.4353C>T | ||
| ENST00000684371.1:n.4386C>T | ||
| ENST00000684404.1:n.4323C>T | ||
| ENST00000684442.1:n.4504C>T | ||
| ENST00000684555.1:c.*2277C>T | ENSP00000507705.1:n.*2277C>T | |
| ENST00000684571.1:c.3906C>T | ENSP00000506935.1:p.Ser1302= | |
| ENST00000684593.1:c.*3770C>T | ENSP00000507005.1:n.*3770C>T | |
| ENST00000684711.1:c.*2461C>T | ENSP00000506841.1:n.*2461C>T | |
| ENST00000302539.9:c.4068C>T | ENSP00000303960.4:p.Ser1356= | |
| ENST00000389817.8:c.4065C>T MANE Select | ENSP00000374467.4:p.Ser1355= | |
| ENST00000642271.1:c.4062C>T | ENSP00000493749.1:p.Ser1354= | |
| ENST00000642579.1:c.2119C>T | ||
| ENST00000642611.1:n.4165C>T | ||
| ENST00000642902.1:c.3847C>T | ||
| ENST00000643260.1:c.4065C>T | ENSP00000494450.1:p.Ser1355= | |
| ENST00000643562.1:c.*2187C>T | ENSP00000496124.1:n.*2187C>T | |
| ENST00000643925.1:c.2705C>T | ||
| ENST00000644057.1:n.142C>T | ||
| ENST00000644484.1:c.*2466C>T | ENSP00000493558.1:n.*2466C>T | |
| ENST00000644675.1:c.*2237C>T | ENSP00000494567.1:n.*2237C>T | |
| ENST00000644757.1:c.*2496C>T | ENSP00000495085.1:n.*2496C>T | |
| ENST00000644772.1:c.4131C>T | ENSP00000494321.1:p.Ser1377= | |
| ENST00000645004.1:n.1720C>T | ||
| ENST00000645076.1:c.3264C>T | ||
| ENST00000645417.1:c.1253C>T | ||
| ENST00000645744.1:c.*2845C>T | ENSP00000494564.1:n.*2845C>T | |
| ENST00000645760.1:c.4486C>T | ||
| ENST00000645884.1:c.*1348C>T | ENSP00000495516.1:n.*1348C>T | |
| ENST00000646003.1:c.*2167C>T | ENSP00000495259.1:n.*2167C>T | |
| ENST00000646207.1:c.*2902C>T | ENSP00000495025.1:n.*2902C>T | |
| ENST00000646276.1:c.*2484C>T | ENSP00000496070.1:n.*2484C>T | |
| ENST00000646592.1:c.3371C>T | ||
| ENST00000646902.1:c.4032C>T | ENSP00000494101.1:p.Ser1344= | |
| ENST00000646993.1:c.*2607C>T | ENSP00000493720.1:n.*2607C>T | |
| ENST00000647013.1:c.4071C>T | ENSP00000496741.1:n.4071C>T | |
| ENST00000647015.1:c.3816C>T | ENSP00000495389.1:p.Ser1272= | |
| ENST00000647086.1:c.*3651C>T | ENSP00000493677.1:n.*3651C>T | |
| ENST00000647158.1:c.*2352C>T | ENSP00000495744.1:n.*2352C>T | |
| ENST00000302539.8:c.4068C>T | ENSP00000303960.4:p.Ser1356= | |
| ENST00000389817.7:c.4065C>T | ENSP00000374467.3:p.Ser1355= | |
| ENST00000527905.5:c.*1087C>T | ENSP00000431653.1:n.*1087C>T | |
| ENST00000528374.1:c.547C>T | ||
| ENST00000531137.1:n.630C>T | ||
| ENST00000531891.1:c.403C>T | ||
| ENST00000532220.1:n.539C>T | ||
| NM_000352.4:c.4065C>T | NP_000343.2:p.Ser1355= | |
| NM_001287174.1:c.4068C>T | NP_001274103.1:p.Ser1356= | |
| XM_011520331.1:c.4065C>T | XP_011518633.1:p.Ser1355= | |
| XM_011520332.1:c.4068C>T | XP_011518634.1:p.Ser1356= | |
| XM_011520333.1:c.2565C>T | XP_011518635.1:p.Ser855= | |
| XR_930890.1:n.4131C>T | ||
| NM_001351295.1:c.4131C>T | NP_001338224.1:p.Ser1377= | |
| NM_001351296.1:c.4065C>T | NP_001338225.1:p.Ser1355= | |
| NM_001351297.1:c.4062C>T | NP_001338226.1:p.Ser1354= | |
| NR_147094.1:n.4360C>T | ||
| XM_017018197.2:c.4134C>T | XP_016873686.1:p.Ser1378= | |
| XM_017018199.1:c.4131C>T | XP_016873688.1:p.Ser1377= | |
| XM_017018201.2:c.4134C>T | XP_016873690.1:p.Ser1378= | |
| XM_017018202.1:c.2631C>T | XP_016873691.1:p.Ser877= | |
| XM_017018204.1:c.2022C>T | XP_016873693.1:p.Ser674= | |
| XM_024448668.1:c.2433C>T | XP_024304436.1:p.Ser811= | |
| XR_001747945.2:n.4206C>T | ||
| XR_001747946.2:n.4137C>T | ||
| XR_002957189.1:n.4802C>T | ||
| NM_000352.6:c.4065C>T MANE Select | NP_000343.2:p.Ser1355= | |
| NM_001287174.2:c.4068C>T | NP_001274103.1:p.Ser1356= | |
| NM_001351295.2:c.4131C>T | NP_001338224.1:p.Ser1377= | |
| NM_001351296.2:c.4065C>T | NP_001338225.1:p.Ser1355= | |
| NM_001351297.2:c.4062C>T | NP_001338226.1:p.Ser1354= | |
| NR_147094.2:n.4360C>T | ||
| NM_001287174.3:c.4068C>T | NP_001274103.1:p.Ser1356= |