Linked Data
ClinVar Variation Id:
157701
ClinVar RCV Id:
RCV000144999
dbSNP Id:
rs587783171
gnomAD v4:
11-17395876-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395876A>C , CM000673.2:g.17395876A>C | GRCh38 |
| NC_000011.9:g.17417423A>C , CM000673.1:g.17417423A>C | GRCh37 |
| NC_000011.8:g.17373999A>C | NCBI36 |
| NG_008867.1:g.86027T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3775T>G | ||
| ENST00000528374.2:c.765T>G | ||
| ENST00000529967.6:n.2513T>G | ||
| ENST00000532220.2:n.3407T>G | ||
| ENST00000642611.2:n.5374T>G | ||
| ENST00000644057.2:n.617T>G | ||
| ENST00000645004.2:n.1673T>G | ||
| ENST00000682051.1:n.4336T>G | ||
| ENST00000682110.1:n.4389T>G | ||
| ENST00000682140.1:c.4040T>G | ENSP00000507829.1:p.Leu1347Arg | |
| ENST00000682185.1:n.5479T>G | ||
| ENST00000682204.1:c.*2312T>G | ENSP00000507094.1:n.*2312T>G | |
| ENST00000682215.1:n.4756T>G | ||
| ENST00000682288.1:c.*2605T>G | ENSP00000507506.1:n.*2605T>G | |
| ENST00000682442.1:n.4609T>G | ||
| ENST00000682528.1:n.4466T>G | ||
| ENST00000682673.1:n.4333T>G | ||
| ENST00000682805.1:n.4794T>G | ||
| ENST00000682965.1:c.*596T>G | ENSP00000508229.1:n.*596T>G | |
| ENST00000683093.1:n.5473T>G | ||
| ENST00000683136.1:c.4057T>G | ENSP00000507768.1:p.Phe1353Val | |
| ENST00000683153.1:n.4431T>G | ||
| ENST00000683365.1:n.4491T>G | ||
| ENST00000683377.1:n.4389T>G | ||
| ENST00000683456.1:c.*1311T>G | ENSP00000508318.1:n.*1311T>G | |
| ENST00000683522.1:n.4389T>G | ||
| ENST00000683562.1:c.*2343T>G | ENSP00000508265.1:n.*2343T>G | |
| ENST00000683693.1:n.5821T>G | ||
| ENST00000683725.1:c.4174T>G | ENSP00000507496.1:p.Phe1392Val | |
| ENST00000684010.1:n.4384T>G | ||
| ENST00000684157.1:n.5374T>G | ||
| ENST00000684253.1:n.4292T>G | ||
| ENST00000684288.1:c.*2346T>G | ENSP00000507143.1:n.*2346T>G | |
| ENST00000684313.1:n.3821T>G | ||
| ENST00000684332.1:n.4462T>G | ||
| ENST00000684371.1:n.4495T>G | ||
| ENST00000684404.1:n.5417T>G | ||
| ENST00000684442.1:n.4613T>G | ||
| ENST00000684555.1:c.*2386T>G | ENSP00000507705.1:n.*2386T>G | |
| ENST00000684571.1:c.4015T>G | ENSP00000506935.1:p.Phe1339Val | |
| ENST00000684593.1:c.*3879T>G | ENSP00000507005.1:n.*3879T>G | |
| ENST00000684711.1:c.*2570T>G | ENSP00000506841.1:n.*2570T>G | |
| ENST00000302539.9:c.4177T>G | ENSP00000303960.4:p.Phe1393Val | |
| ENST00000389817.8:c.4174T>G MANE Select | ENSP00000374467.4:p.Phe1392Val | |
| ENST00000642271.1:c.4171T>G | ENSP00000493749.1:p.Phe1391Val | |
| ENST00000642579.1:c.2228T>G | ||
| ENST00000642611.1:n.5259T>G | ||
| ENST00000642902.1:c.3956T>G | ||
| ENST00000643260.1:c.4174T>G | ENSP00000494450.1:p.Phe1392Val | |
| ENST00000643562.1:c.*2296T>G | ENSP00000496124.1:n.*2296T>G | |
| ENST00000643925.1:c.2814T>G | ||
| ENST00000644057.1:n.251T>G | ||
| ENST00000644484.1:c.*3560T>G | ENSP00000493558.1:n.*3560T>G | |
| ENST00000644675.1:c.*2346T>G | ENSP00000494567.1:n.*2346T>G | |
| ENST00000644757.1:c.*3202+388T>G | ENSP00000495085.1:n.*3202+388T>G | |
| ENST00000644772.1:c.4240T>G | ENSP00000494321.1:p.Phe1414Val | |
| ENST00000645004.1:n.1867T>G | ||
| ENST00000645076.1:c.3373T>G | ||
| ENST00000645417.1:c.1362T>G | ||
| ENST00000645744.1:c.*3939T>G | ENSP00000494564.1:n.*3939T>G | |
| ENST00000645760.1:c.4595T>G | ||
| ENST00000645884.1:c.*1457T>G | ENSP00000495516.1:n.*1457T>G | |
| ENST00000646003.1:c.*2276T>G | ENSP00000495259.1:n.*2276T>G | |
| ENST00000646207.1:c.*3011T>G | ENSP00000495025.1:n.*3011T>G | |
| ENST00000646276.1:c.*3578T>G | ENSP00000496070.1:n.*3578T>G | |
| ENST00000646592.1:c.3480T>G | ||
| ENST00000646902.1:c.4141T>G | ENSP00000494101.1:p.Phe1381Val | |
| ENST00000646993.1:c.*2716T>G | ENSP00000493720.1:n.*2716T>G | |
| ENST00000647013.1:c.4180T>G | ENSP00000496741.1:n.4180T>G | |
| ENST00000647015.1:c.3925T>G | ENSP00000495389.1:p.Phe1309Val | |
| ENST00000647086.1:c.*3760T>G | ENSP00000493677.1:n.*3760T>G | |
| ENST00000647158.1:c.*2461T>G | ENSP00000495744.1:n.*2461T>G | |
| ENST00000302539.8:c.4177T>G | ENSP00000303960.4:p.Phe1393Val | |
| ENST00000389817.7:c.4174T>G | ENSP00000374467.3:p.Phe1392Val | |
| ENST00000525022.1:n.40T>G | ||
| ENST00000526168.5:c.42T>G | ||
| ENST00000531642.5:c.10T>G | ||
| NM_000352.4:c.4174T>G | NP_000343.2:p.Phe1392Val | |
| NM_001287174.1:c.4177T>G | NP_001274103.1:p.Phe1393Val | |
| XM_011520331.1:c.4174T>G | XP_011518633.1:p.Phe1392Val | |
| XM_011520332.1:c.4177T>G | XP_011518634.1:p.Phe1393Val | |
| XM_011520333.1:c.2674T>G | XP_011518635.1:p.Phe892Val | |
| XR_930890.1:n.4240T>G | ||
| NM_001351295.1:c.4240T>G | NP_001338224.1:p.Phe1414Val | |
| NM_001351296.1:c.4174T>G | NP_001338225.1:p.Phe1392Val | |
| NM_001351297.1:c.4171T>G | NP_001338226.1:p.Phe1391Val | |
| NR_147094.1:n.4469T>G | ||
| XM_017018197.2:c.4243T>G | XP_016873686.1:p.Phe1415Val | |
| XM_017018199.1:c.4240T>G | XP_016873688.1:p.Phe1414Val | |
| XM_017018201.2:c.4243T>G | XP_016873690.1:p.Phe1415Val | |
| XM_017018202.1:c.2740T>G | XP_016873691.1:p.Phe914Val | |
| XM_017018204.1:c.2131T>G | XP_016873693.1:p.Phe711Val | |
| XM_024448668.1:c.2542T>G | XP_024304436.1:p.Phe848Val | |
| XR_001747945.2:n.4315T>G | ||
| XR_001747946.2:n.4246T>G | ||
| XR_002957189.1:n.5896T>G | ||
| NM_000352.6:c.4174T>G MANE Select | NP_000343.2:p.Phe1392Val | |
| NM_001287174.2:c.4177T>G | NP_001274103.1:p.Phe1393Val | |
| NM_001351295.2:c.4240T>G | NP_001338224.1:p.Phe1414Val | |
| NM_001351296.2:c.4174T>G | NP_001338225.1:p.Phe1392Val | |
| NM_001351297.2:c.4171T>G | NP_001338226.1:p.Phe1391Val | |
| NR_147094.2:n.4469T>G | ||
| NM_001287174.3:c.4177T>G | NP_001274103.1:p.Phe1393Val |