Linked Data
ClinVar Variation Id:
35615
dbSNP Id:
rs193922401
gnomAD v4:
11-17395914-C-A
PubMed:
PMID:17919176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395914C>A , CM000673.2:g.17395914C>A | GRCh38 |
| NC_000011.9:g.17417461C>A , CM000673.1:g.17417461C>A | GRCh37 |
| NC_000011.8:g.17374037C>A | NCBI36 |
| NG_008867.1:g.85989G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3737G>T | ||
| ENST00000528374.2:c.727G>T | ||
| ENST00000529967.6:n.2475G>T | ||
| ENST00000532220.2:n.3369G>T | ||
| ENST00000642611.2:n.5336G>T | ||
| ENST00000644057.2:n.579G>T | ||
| ENST00000645004.2:n.1635G>T | ||
| ENST00000682051.1:n.4298G>T | ||
| ENST00000682110.1:n.4351G>T | ||
| ENST00000682140.1:c.4002G>T | ENSP00000507829.1:p.Pro1334= | |
| ENST00000682185.1:n.5441G>T | ||
| ENST00000682204.1:c.*2274G>T | ENSP00000507094.1:n.*2274G>T | |
| ENST00000682215.1:n.4718G>T | ||
| ENST00000682288.1:c.*2567G>T | ENSP00000507506.1:n.*2567G>T | |
| ENST00000682442.1:n.4571G>T | ||
| ENST00000682528.1:n.4428G>T | ||
| ENST00000682673.1:n.4295G>T | ||
| ENST00000682805.1:n.4756G>T | ||
| ENST00000682965.1:c.*558G>T | ENSP00000508229.1:n.*558G>T | |
| ENST00000683093.1:n.5435G>T | ||
| ENST00000683136.1:c.4019G>T | ENSP00000507768.1:p.Arg1340Leu | |
| ENST00000683153.1:n.4393G>T | ||
| ENST00000683365.1:n.4453G>T | ||
| ENST00000683377.1:n.4351G>T | ||
| ENST00000683456.1:c.*1273G>T | ENSP00000508318.1:n.*1273G>T | |
| ENST00000683522.1:n.4351G>T | ||
| ENST00000683562.1:c.*2305G>T | ENSP00000508265.1:n.*2305G>T | |
| ENST00000683693.1:n.5783G>T | ||
| ENST00000683725.1:c.4136G>T | ENSP00000507496.1:p.Arg1379Leu | |
| ENST00000684010.1:n.4346G>T | ||
| ENST00000684157.1:n.5336G>T | ||
| ENST00000684253.1:n.4254G>T | ||
| ENST00000684288.1:c.*2308G>T | ENSP00000507143.1:n.*2308G>T | |
| ENST00000684313.1:n.3783G>T | ||
| ENST00000684332.1:n.4424G>T | ||
| ENST00000684371.1:n.4457G>T | ||
| ENST00000684404.1:n.5379G>T | ||
| ENST00000684442.1:n.4575G>T | ||
| ENST00000684555.1:c.*2348G>T | ENSP00000507705.1:n.*2348G>T | |
| ENST00000684571.1:c.3977G>T | ENSP00000506935.1:p.Arg1326Leu | |
| ENST00000684593.1:c.*3841G>T | ENSP00000507005.1:n.*3841G>T | |
| ENST00000684711.1:c.*2532G>T | ENSP00000506841.1:n.*2532G>T | |
| ENST00000302539.9:c.4139G>T | ENSP00000303960.4:p.Arg1380Leu | |
| ENST00000389817.8:c.4136G>T MANE Select | ENSP00000374467.4:p.Arg1379Leu | |
| ENST00000642271.1:c.4133G>T | ENSP00000493749.1:p.Arg1378Leu | |
| ENST00000642579.1:c.2190G>T | ||
| ENST00000642611.1:n.5221G>T | ||
| ENST00000642902.1:c.3918G>T | ||
| ENST00000643260.1:c.4136G>T | ENSP00000494450.1:p.Arg1379Leu | |
| ENST00000643562.1:c.*2258G>T | ENSP00000496124.1:n.*2258G>T | |
| ENST00000643925.1:c.2776G>T | ||
| ENST00000644057.1:n.213G>T | ||
| ENST00000644484.1:c.*3522G>T | ENSP00000493558.1:n.*3522G>T | |
| ENST00000644675.1:c.*2308G>T | ENSP00000494567.1:n.*2308G>T | |
| ENST00000644757.1:c.*3202+350G>T | ENSP00000495085.1:n.*3202+350G>T | |
| ENST00000644772.1:c.4202G>T | ENSP00000494321.1:p.Arg1401Leu | |
| ENST00000645004.1:n.1829G>T | ||
| ENST00000645076.1:c.3335G>T | ||
| ENST00000645417.1:c.1324G>T | ||
| ENST00000645744.1:c.*3901G>T | ENSP00000494564.1:n.*3901G>T | |
| ENST00000645760.1:c.4557G>T | ||
| ENST00000645884.1:c.*1419G>T | ENSP00000495516.1:n.*1419G>T | |
| ENST00000646003.1:c.*2238G>T | ENSP00000495259.1:n.*2238G>T | |
| ENST00000646207.1:c.*2973G>T | ENSP00000495025.1:n.*2973G>T | |
| ENST00000646276.1:c.*3540G>T | ENSP00000496070.1:n.*3540G>T | |
| ENST00000646592.1:c.3442G>T | ||
| ENST00000646902.1:c.4103G>T | ENSP00000494101.1:p.Arg1368Leu | |
| ENST00000646993.1:c.*2678G>T | ENSP00000493720.1:n.*2678G>T | |
| ENST00000647013.1:c.4142G>T | ENSP00000496741.1:n.4142G>T | |
| ENST00000647015.1:c.3887G>T | ENSP00000495389.1:p.Arg1296Leu | |
| ENST00000647086.1:c.*3722G>T | ENSP00000493677.1:n.*3722G>T | |
| ENST00000647158.1:c.*2423G>T | ENSP00000495744.1:n.*2423G>T | |
| ENST00000302539.8:c.4139G>T | ENSP00000303960.4:p.Arg1380Leu | |
| ENST00000389817.7:c.4136G>T | ENSP00000374467.3:p.Arg1379Leu | |
| ENST00000525022.1:n.2G>T | ||
| ENST00000526168.5:c.4G>T | ||
| ENST00000532220.1:n.610G>T | ||
| NM_000352.4:c.4136G>T | NP_000343.2:p.Arg1379Leu | |
| NM_001287174.1:c.4139G>T | NP_001274103.1:p.Arg1380Leu | |
| XM_011520331.1:c.4136G>T | XP_011518633.1:p.Arg1379Leu | |
| XM_011520332.1:c.4139G>T | XP_011518634.1:p.Arg1380Leu | |
| XM_011520333.1:c.2636G>T | XP_011518635.1:p.Arg879Leu | |
| XR_930890.1:n.4202G>T | ||
| NM_001351295.1:c.4202G>T | NP_001338224.1:p.Arg1401Leu | |
| NM_001351296.1:c.4136G>T | NP_001338225.1:p.Arg1379Leu | |
| NM_001351297.1:c.4133G>T | NP_001338226.1:p.Arg1378Leu | |
| NR_147094.1:n.4431G>T | ||
| XM_017018197.2:c.4205G>T | XP_016873686.1:p.Arg1402Leu | |
| XM_017018199.1:c.4202G>T | XP_016873688.1:p.Arg1401Leu | |
| XM_017018201.2:c.4205G>T | XP_016873690.1:p.Arg1402Leu | |
| XM_017018202.1:c.2702G>T | XP_016873691.1:p.Arg901Leu | |
| XM_017018204.1:c.2093G>T | XP_016873693.1:p.Arg698Leu | |
| XM_024448668.1:c.2504G>T | XP_024304436.1:p.Arg835Leu | |
| XR_001747945.2:n.4277G>T | ||
| XR_001747946.2:n.4208G>T | ||
| XR_002957189.1:n.5858G>T | ||
| NM_000352.6:c.4136G>T MANE Select | NP_000343.2:p.Arg1379Leu | |
| NM_001287174.2:c.4139G>T | NP_001274103.1:p.Arg1380Leu | |
| NM_001351295.2:c.4202G>T | NP_001338224.1:p.Arg1401Leu | |
| NM_001351296.2:c.4136G>T | NP_001338225.1:p.Arg1379Leu | |
| NM_001351297.2:c.4133G>T | NP_001338226.1:p.Arg1378Leu | |
| NR_147094.2:n.4431G>T | ||
| NM_001287174.3:c.4139G>T | NP_001274103.1:p.Arg1380Leu |