Linked Data
ClinVar Variation Id:
796817
dbSNP Id:
rs746146690
ExAC:
11:17418586 C / T
gnomAD v2:
11-17418586-C-T
gnomAD v4:
11-17397039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397039C>T , CM000673.2:g.17397039C>T | GRCh38 |
| NC_000011.9:g.17418586C>T , CM000673.1:g.17418586C>T | GRCh37 |
| NC_000011.8:g.17375162C>T | NCBI36 |
| NG_008867.1:g.84864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3597G>A | ||
| ENST00000528374.2:c.587G>A | ||
| ENST00000529967.6:n.2335G>A | ||
| ENST00000532220.2:n.2244G>A | ||
| ENST00000642611.2:n.4211G>A | ||
| ENST00000644057.2:n.439G>A | ||
| ENST00000645004.2:n.1495G>A | ||
| ENST00000682051.1:n.4158G>A | ||
| ENST00000682110.1:n.4211G>A | ||
| ENST00000682140.1:c.3985+154G>A | ENSP00000507829.1:n.3985+154G>A | |
| ENST00000682185.1:n.5301G>A | ||
| ENST00000682204.1:c.*2134G>A | ENSP00000507094.1:n.*2134G>A | |
| ENST00000682215.1:n.4578G>A | ||
| ENST00000682288.1:c.*2427G>A | ENSP00000507506.1:n.*2427G>A | |
| ENST00000682442.1:n.4431G>A | ||
| ENST00000682528.1:n.4288G>A | ||
| ENST00000682673.1:n.4155G>A | ||
| ENST00000682805.1:n.4578G>A | ||
| ENST00000682965.1:c.*418G>A | ENSP00000508229.1:n.*418G>A | |
| ENST00000683093.1:n.4310G>A | ||
| ENST00000683136.1:c.3879G>A | ENSP00000507768.1:p.Ser1293= | |
| ENST00000683153.1:n.4253G>A | ||
| ENST00000683365.1:n.4313G>A | ||
| ENST00000683377.1:n.4211G>A | ||
| ENST00000683456.1:c.*1133G>A | ENSP00000508318.1:n.*1133G>A | |
| ENST00000683522.1:n.4211G>A | ||
| ENST00000683562.1:c.*2165G>A | ENSP00000508265.1:n.*2165G>A | |
| ENST00000683693.1:n.4658G>A | ||
| ENST00000683725.1:c.3996G>A | ENSP00000507496.1:p.Ser1332= | |
| ENST00000684010.1:n.4206G>A | ||
| ENST00000684157.1:n.4211G>A | ||
| ENST00000684253.1:n.4114G>A | ||
| ENST00000684288.1:c.*2168G>A | ENSP00000507143.1:n.*2168G>A | |
| ENST00000684313.1:n.3643G>A | ||
| ENST00000684332.1:n.4284G>A | ||
| ENST00000684371.1:n.4317G>A | ||
| ENST00000684404.1:n.4254G>A | ||
| ENST00000684442.1:n.4435G>A | ||
| ENST00000684555.1:c.*2208G>A | ENSP00000507705.1:n.*2208G>A | |
| ENST00000684571.1:c.3837G>A | ENSP00000506935.1:p.Ser1279= | |
| ENST00000684593.1:c.*3701G>A | ENSP00000507005.1:n.*3701G>A | |
| ENST00000684711.1:c.*2392G>A | ENSP00000506841.1:n.*2392G>A | |
| ENST00000302539.9:c.3999G>A | ENSP00000303960.4:p.Ser1333= | |
| ENST00000389817.8:c.3996G>A MANE Select | ENSP00000374467.4:p.Ser1332= | |
| ENST00000642271.1:c.3993G>A | ENSP00000493749.1:p.Ser1331= | |
| ENST00000642579.1:c.2073-23G>A | ||
| ENST00000642611.1:n.4096G>A | ||
| ENST00000642902.1:c.3778G>A | ||
| ENST00000643260.1:c.3996G>A | ENSP00000494450.1:p.Ser1332= | |
| ENST00000643562.1:c.*2118G>A | ENSP00000496124.1:n.*2118G>A | |
| ENST00000643925.1:c.2636G>A | ||
| ENST00000644057.1:n.73G>A | ||
| ENST00000644484.1:c.*2397G>A | ENSP00000493558.1:n.*2397G>A | |
| ENST00000644675.1:c.*2168G>A | ENSP00000494567.1:n.*2168G>A | |
| ENST00000644757.1:c.*2427G>A | ENSP00000495085.1:n.*2427G>A | |
| ENST00000644772.1:c.4062G>A | ENSP00000494321.1:p.Ser1354= | |
| ENST00000645004.1:n.1651G>A | ||
| ENST00000645076.1:c.3195G>A | ||
| ENST00000645417.1:c.1184G>A | ||
| ENST00000645744.1:c.*2776G>A | ENSP00000494564.1:n.*2776G>A | |
| ENST00000645760.1:c.4417G>A | ||
| ENST00000645884.1:c.*1279G>A | ENSP00000495516.1:n.*1279G>A | |
| ENST00000646003.1:c.*2098G>A | ENSP00000495259.1:n.*2098G>A | |
| ENST00000646207.1:c.*2833G>A | ENSP00000495025.1:n.*2833G>A | |
| ENST00000646276.1:c.*2415G>A | ENSP00000496070.1:n.*2415G>A | |
| ENST00000646592.1:c.3302G>A | ||
| ENST00000646902.1:c.3986-23G>A | ENSP00000494101.1:n.3986-23G>A | |
| ENST00000646993.1:c.*2538G>A | ENSP00000493720.1:n.*2538G>A | |
| ENST00000647013.1:c.4002G>A | ENSP00000496741.1:n.4002G>A | |
| ENST00000647015.1:c.3747G>A | ENSP00000495389.1:p.Ser1249= | |
| ENST00000647086.1:c.*3605-23G>A | ENSP00000493677.1:n.*3605-23G>A | |
| ENST00000647158.1:c.*2283G>A | ENSP00000495744.1:n.*2283G>A | |
| ENST00000302539.8:c.3999G>A | ENSP00000303960.4:p.Ser1333= | |
| ENST00000389817.7:c.3996G>A | ENSP00000374467.3:p.Ser1332= | |
| ENST00000527905.5:c.*1018G>A | ENSP00000431653.1:n.*1018G>A | |
| ENST00000528374.1:c.478G>A | ||
| ENST00000531137.1:n.561G>A | ||
| ENST00000531891.1:c.357-23G>A | ||
| ENST00000532220.1:n.470G>A | ||
| NM_000352.4:c.3996G>A | NP_000343.2:p.Ser1332= | |
| NM_001287174.1:c.3999G>A | NP_001274103.1:p.Ser1333= | |
| XM_011520331.1:c.3996G>A | XP_011518633.1:p.Ser1332= | |
| XM_011520332.1:c.3999G>A | XP_011518634.1:p.Ser1333= | |
| XM_011520333.1:c.2496G>A | XP_011518635.1:p.Ser832= | |
| XR_930890.1:n.4062G>A | ||
| NM_001351295.1:c.4062G>A | NP_001338224.1:p.Ser1354= | |
| NM_001351296.1:c.3996G>A | NP_001338225.1:p.Ser1332= | |
| NM_001351297.1:c.3993G>A | NP_001338226.1:p.Ser1331= | |
| NR_147094.1:n.4291G>A | ||
| XM_017018197.2:c.4065G>A | XP_016873686.1:p.Ser1355= | |
| XM_017018199.1:c.4062G>A | XP_016873688.1:p.Ser1354= | |
| XM_017018201.2:c.4065G>A | XP_016873690.1:p.Ser1355= | |
| XM_017018202.1:c.2562G>A | XP_016873691.1:p.Ser854= | |
| XM_017018204.1:c.1953G>A | XP_016873693.1:p.Ser651= | |
| XM_024448668.1:c.2364G>A | XP_024304436.1:p.Ser788= | |
| XR_001747945.2:n.4137G>A | ||
| XR_001747946.2:n.4068G>A | ||
| XR_002957189.1:n.4733G>A | ||
| NM_000352.6:c.3996G>A MANE Select | NP_000343.2:p.Ser1332= | |
| NM_001287174.2:c.3999G>A | NP_001274103.1:p.Ser1333= | |
| NM_001351295.2:c.4062G>A | NP_001338224.1:p.Ser1354= | |
| NM_001351296.2:c.3996G>A | NP_001338225.1:p.Ser1332= | |
| NM_001351297.2:c.3993G>A | NP_001338226.1:p.Ser1331= | |
| NR_147094.2:n.4291G>A | ||
| NM_001287174.3:c.3999G>A | NP_001274103.1:p.Ser1333= |