Linked Data
ClinVar Variation Id:
35614
dbSNP Id:
rs137852673
gnomAD v2:
11-17417462-G-T
gnomAD v3:
11-17395915-G-T
gnomAD v4:
11-17395915-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395915G>T , CM000673.2:g.17395915G>T | GRCh38 |
| NC_000011.9:g.17417462G>T , CM000673.1:g.17417462G>T | GRCh37 |
| NC_000011.8:g.17374038G>T | NCBI36 |
| NG_008867.1:g.85988C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3736C>A | ||
| ENST00000528374.2:c.726C>A | ||
| ENST00000529967.6:n.2474C>A | ||
| ENST00000532220.2:n.3368C>A | ||
| ENST00000642611.2:n.5335C>A | ||
| ENST00000644057.2:n.578C>A | ||
| ENST00000645004.2:n.1634C>A | ||
| ENST00000682051.1:n.4297C>A | ||
| ENST00000682110.1:n.4350C>A | ||
| ENST00000682140.1:c.4001C>A | ENSP00000507829.1:p.Pro1334Gln | |
| ENST00000682185.1:n.5440C>A | ||
| ENST00000682204.1:c.*2273C>A | ENSP00000507094.1:n.*2273C>A | |
| ENST00000682215.1:n.4717C>A | ||
| ENST00000682288.1:c.*2566C>A | ENSP00000507506.1:n.*2566C>A | |
| ENST00000682442.1:n.4570C>A | ||
| ENST00000682528.1:n.4427C>A | ||
| ENST00000682673.1:n.4294C>A | ||
| ENST00000682805.1:n.4755C>A | ||
| ENST00000682965.1:c.*557C>A | ENSP00000508229.1:n.*557C>A | |
| ENST00000683093.1:n.5434C>A | ||
| ENST00000683136.1:c.4018C>A | ENSP00000507768.1:p.Arg1340Ser | |
| ENST00000683153.1:n.4392C>A | ||
| ENST00000683365.1:n.4452C>A | ||
| ENST00000683377.1:n.4350C>A | ||
| ENST00000683456.1:c.*1272C>A | ENSP00000508318.1:n.*1272C>A | |
| ENST00000683522.1:n.4350C>A | ||
| ENST00000683562.1:c.*2304C>A | ENSP00000508265.1:n.*2304C>A | |
| ENST00000683693.1:n.5782C>A | ||
| ENST00000683725.1:c.4135C>A | ENSP00000507496.1:p.Arg1379Ser | |
| ENST00000684010.1:n.4345C>A | ||
| ENST00000684157.1:n.5335C>A | ||
| ENST00000684253.1:n.4253C>A | ||
| ENST00000684288.1:c.*2307C>A | ENSP00000507143.1:n.*2307C>A | |
| ENST00000684313.1:n.3782C>A | ||
| ENST00000684332.1:n.4423C>A | ||
| ENST00000684371.1:n.4456C>A | ||
| ENST00000684404.1:n.5378C>A | ||
| ENST00000684442.1:n.4574C>A | ||
| ENST00000684555.1:c.*2347C>A | ENSP00000507705.1:n.*2347C>A | |
| ENST00000684571.1:c.3976C>A | ENSP00000506935.1:p.Arg1326Ser | |
| ENST00000684593.1:c.*3840C>A | ENSP00000507005.1:n.*3840C>A | |
| ENST00000684711.1:c.*2531C>A | ENSP00000506841.1:n.*2531C>A | |
| ENST00000302539.9:c.4138C>A | ENSP00000303960.4:p.Arg1380Ser | |
| ENST00000389817.8:c.4135C>A MANE Select | ENSP00000374467.4:p.Arg1379Ser | |
| ENST00000642271.1:c.4132C>A | ENSP00000493749.1:p.Arg1378Ser | |
| ENST00000642579.1:c.2189C>A | ||
| ENST00000642611.1:n.5220C>A | ||
| ENST00000642902.1:c.3917C>A | ||
| ENST00000643260.1:c.4135C>A | ENSP00000494450.1:p.Arg1379Ser | |
| ENST00000643562.1:c.*2257C>A | ENSP00000496124.1:n.*2257C>A | |
| ENST00000643925.1:c.2775C>A | ||
| ENST00000644057.1:n.212C>A | ||
| ENST00000644484.1:c.*3521C>A | ENSP00000493558.1:n.*3521C>A | |
| ENST00000644675.1:c.*2307C>A | ENSP00000494567.1:n.*2307C>A | |
| ENST00000644757.1:c.*3202+349C>A | ENSP00000495085.1:n.*3202+349C>A | |
| ENST00000644772.1:c.4201C>A | ENSP00000494321.1:p.Arg1401Ser | |
| ENST00000645004.1:n.1828C>A | ||
| ENST00000645076.1:c.3334C>A | ||
| ENST00000645417.1:c.1323C>A | ||
| ENST00000645744.1:c.*3900C>A | ENSP00000494564.1:n.*3900C>A | |
| ENST00000645760.1:c.4556C>A | ||
| ENST00000645884.1:c.*1418C>A | ENSP00000495516.1:n.*1418C>A | |
| ENST00000646003.1:c.*2237C>A | ENSP00000495259.1:n.*2237C>A | |
| ENST00000646207.1:c.*2972C>A | ENSP00000495025.1:n.*2972C>A | |
| ENST00000646276.1:c.*3539C>A | ENSP00000496070.1:n.*3539C>A | |
| ENST00000646592.1:c.3441C>A | ||
| ENST00000646902.1:c.4102C>A | ENSP00000494101.1:p.Arg1368Ser | |
| ENST00000646993.1:c.*2677C>A | ENSP00000493720.1:n.*2677C>A | |
| ENST00000647013.1:c.4141C>A | ENSP00000496741.1:n.4141C>A | |
| ENST00000647015.1:c.3886C>A | ENSP00000495389.1:p.Arg1296Ser | |
| ENST00000647086.1:c.*3721C>A | ENSP00000493677.1:n.*3721C>A | |
| ENST00000647158.1:c.*2422C>A | ENSP00000495744.1:n.*2422C>A | |
| ENST00000302539.8:c.4138C>A | ENSP00000303960.4:p.Arg1380Ser | |
| ENST00000389817.7:c.4135C>A | ENSP00000374467.3:p.Arg1379Ser | |
| ENST00000525022.1:n.1C>A | ||
| ENST00000526168.5:c.3C>A | ||
| ENST00000532220.1:n.609C>A | ||
| NM_000352.4:c.4135C>A | NP_000343.2:p.Arg1379Ser | |
| NM_001287174.1:c.4138C>A | NP_001274103.1:p.Arg1380Ser | |
| XM_011520331.1:c.4135C>A | XP_011518633.1:p.Arg1379Ser | |
| XM_011520332.1:c.4138C>A | XP_011518634.1:p.Arg1380Ser | |
| XM_011520333.1:c.2635C>A | XP_011518635.1:p.Arg879Ser | |
| XR_930890.1:n.4201C>A | ||
| NM_001351295.1:c.4201C>A | NP_001338224.1:p.Arg1401Ser | |
| NM_001351296.1:c.4135C>A | NP_001338225.1:p.Arg1379Ser | |
| NM_001351297.1:c.4132C>A | NP_001338226.1:p.Arg1378Ser | |
| NR_147094.1:n.4430C>A | ||
| XM_017018197.2:c.4204C>A | XP_016873686.1:p.Arg1402Ser | |
| XM_017018199.1:c.4201C>A | XP_016873688.1:p.Arg1401Ser | |
| XM_017018201.2:c.4204C>A | XP_016873690.1:p.Arg1402Ser | |
| XM_017018202.1:c.2701C>A | XP_016873691.1:p.Arg901Ser | |
| XM_017018204.1:c.2092C>A | XP_016873693.1:p.Arg698Ser | |
| XM_024448668.1:c.2503C>A | XP_024304436.1:p.Arg835Ser | |
| XR_001747945.2:n.4276C>A | ||
| XR_001747946.2:n.4207C>A | ||
| XR_002957189.1:n.5857C>A | ||
| NM_000352.6:c.4135C>A MANE Select | NP_000343.2:p.Arg1379Ser | |
| NM_001287174.2:c.4138C>A | NP_001274103.1:p.Arg1380Ser | |
| NM_001351295.2:c.4201C>A | NP_001338224.1:p.Arg1401Ser | |
| NM_001351296.2:c.4135C>A | NP_001338225.1:p.Arg1379Ser | |
| NM_001351297.2:c.4132C>A | NP_001338226.1:p.Arg1378Ser | |
| NR_147094.2:n.4430C>A | ||
| NM_001287174.3:c.4138C>A | NP_001274103.1:p.Arg1380Ser |