Linked Data
ClinVar Variation Id:
554121
dbSNP Id:
rs547150342
ExAC:
11:17434247 C / T
gnomAD v2:
11-17434247-C-T
gnomAD v3:
11-17412700-C-T
gnomAD v4:
11-17412700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17412700C>T , CM000673.2:g.17412700C>T | GRCh38 |
| NC_000011.9:g.17434247C>T , CM000673.1:g.17434247C>T | GRCh37 |
| NC_000011.8:g.17390823C>T | NCBI36 |
| NG_008867.1:g.69203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2191G>A | ||
| ENST00000529967.6:n.781G>A | ||
| ENST00000642611.2:n.2591G>A | ||
| ENST00000682051.1:n.2538G>A | ||
| ENST00000682110.1:n.2591G>A | ||
| ENST00000682140.1:c.2519G>A | ENSP00000507829.1:p.Arg840Gln | |
| ENST00000682185.1:n.3827G>A | ||
| ENST00000682204.1:c.*660G>A | ENSP00000507094.1:n.*660G>A | |
| ENST00000682215.1:n.2588G>A | ||
| ENST00000682288.1:c.*953G>A | ENSP00000507506.1:n.*953G>A | |
| ENST00000682442.1:n.2712G>A | ||
| ENST00000682528.1:n.2588G>A | ||
| ENST00000682673.1:n.2535G>A | ||
| ENST00000682805.1:n.2588G>A | ||
| ENST00000682965.1:c.2519G>A | ENSP00000508229.1:p.Arg840Gln | |
| ENST00000683093.1:n.2690G>A | ||
| ENST00000683136.1:c.2519G>A | ENSP00000507768.1:p.Arg840Gln | |
| ENST00000683153.1:n.2747G>A | ||
| ENST00000683365.1:n.2693G>A | ||
| ENST00000683377.1:n.2591G>A | ||
| ENST00000683456.1:c.2522G>A | ENSP00000508318.1:p.Arg841Gln | |
| ENST00000683522.1:n.2591G>A | ||
| ENST00000683562.1:c.*691G>A | ENSP00000508265.1:n.*691G>A | |
| ENST00000683693.1:n.2588G>A | ||
| ENST00000683725.1:c.2522G>A | ENSP00000507496.1:p.Arg841Gln | |
| ENST00000684010.1:n.2506G>A | ||
| ENST00000684157.1:n.2591G>A | ||
| ENST00000684253.1:n.2494G>A | ||
| ENST00000684288.1:c.*694G>A | ENSP00000507143.1:n.*694G>A | |
| ENST00000684313.1:n.2023G>A | ||
| ENST00000684332.1:n.2664G>A | ||
| ENST00000684371.1:n.2697G>A | ||
| ENST00000684404.1:n.2588G>A | ||
| ENST00000684442.1:n.2591G>A | ||
| ENST00000684555.1:c.*734G>A | ENSP00000507705.1:n.*734G>A | |
| ENST00000684571.1:c.2363G>A | ENSP00000506935.1:p.Arg788Gln | |
| ENST00000684593.1:c.*2227G>A | ENSP00000507005.1:n.*2227G>A | |
| ENST00000684711.1:c.*918G>A | ENSP00000506841.1:n.*918G>A | |
| ENST00000302539.9:c.2525G>A | ENSP00000303960.4:p.Arg842Gln | |
| ENST00000389817.8:c.2522G>A MANE Select | ENSP00000374467.4:p.Arg841Gln | |
| ENST00000642271.1:c.2519G>A | ENSP00000493749.1:p.Arg840Gln | |
| ENST00000642579.1:c.606G>A | ||
| ENST00000642611.1:n.2476G>A | ||
| ENST00000642902.1:c.2357G>A | ||
| ENST00000643260.1:c.2522G>A | ENSP00000494450.1:p.Arg841Gln | |
| ENST00000643562.1:c.*498G>A | ENSP00000496124.1:n.*498G>A | |
| ENST00000643925.1:c.566G>A | ||
| ENST00000644447.1:c.878G>A | ENSP00000496282.1:p.Arg293Gln | |
| ENST00000644472.1:c.*883G>A | ENSP00000495378.1:n.*883G>A | |
| ENST00000644484.1:c.*731G>A | ENSP00000493558.1:n.*731G>A | |
| ENST00000644542.1:c.*2227G>A | ENSP00000495532.1:n.*2227G>A | |
| ENST00000644675.1:c.*694G>A | ENSP00000494567.1:n.*694G>A | |
| ENST00000644757.1:c.*827G>A | ENSP00000495085.1:n.*827G>A | |
| ENST00000644772.1:c.2588G>A | ENSP00000494321.1:p.Arg863Gln | |
| ENST00000645076.1:c.1774G>A | ||
| ENST00000645744.1:c.*886G>A | ENSP00000494564.1:n.*886G>A | |
| ENST00000645760.1:c.2797G>A | ||
| ENST00000645884.1:c.2522G>A | ENSP00000495516.1:p.Arg841Gln | |
| ENST00000646003.1:c.*578G>A | ENSP00000495259.1:n.*578G>A | |
| ENST00000646207.1:c.*886G>A | ENSP00000495025.1:n.*886G>A | |
| ENST00000646276.1:c.*795G>A | ENSP00000496070.1:n.*795G>A | |
| ENST00000646592.1:c.1748G>A | ||
| ENST00000646902.1:c.2519G>A | ENSP00000494101.1:p.Arg840Gln | |
| ENST00000646993.1:c.*918G>A | ENSP00000493720.1:n.*918G>A | |
| ENST00000647013.1:c.2528G>A | ENSP00000496741.1:n.2528G>A | |
| ENST00000647015.1:c.2273G>A | ENSP00000495389.1:p.Arg758Gln | |
| ENST00000647086.1:c.*2252G>A | ENSP00000493677.1:n.*2252G>A | |
| ENST00000647158.1:c.*663G>A | ENSP00000495744.1:n.*663G>A | |
| ENST00000302539.8:c.2525G>A | ENSP00000303960.4:p.Arg842Gln | |
| ENST00000389817.7:c.2522G>A | ENSP00000374467.3:p.Arg841Gln | |
| ENST00000526921.5:n.206G>A | ||
| ENST00000527905.5:c.2492G>A | ENSP00000431653.1:p.Arg831Gln | |
| ENST00000529967.5:n.191G>A | ||
| ENST00000530147.5:n.105G>A | ||
| ENST00000531911.1:n.636G>A | ||
| NM_000352.4:c.2522G>A | NP_000343.2:p.Arg841Gln | |
| NM_001287174.1:c.2525G>A | NP_001274103.1:p.Arg842Gln | |
| XM_011520331.1:c.2522G>A | XP_011518633.1:p.Arg841Gln | |
| XM_011520332.1:c.2525G>A | XP_011518634.1:p.Arg842Gln | |
| XM_011520333.1:c.1022G>A | XP_011518635.1:p.Arg341Gln | |
| XM_011520334.1:c.2525G>A | XP_011518636.1:p.Arg842Gln | |
| XR_930890.1:n.2588G>A | ||
| XR_930891.1:n.2588G>A | ||
| XR_930892.1:n.2588G>A | ||
| XR_930893.1:n.2585G>A | ||
| NM_001351295.1:c.2588G>A | NP_001338224.1:p.Arg863Gln | |
| NM_001351296.1:c.2522G>A | NP_001338225.1:p.Arg841Gln | |
| NM_001351297.1:c.2519G>A | NP_001338226.1:p.Arg840Gln | |
| NR_147094.1:n.2591G>A | ||
| XM_017018197.2:c.2591G>A | XP_016873686.1:p.Arg864Gln | |
| XM_017018199.1:c.2588G>A | XP_016873688.1:p.Arg863Gln | |
| XM_017018201.2:c.2591G>A | XP_016873690.1:p.Arg864Gln | |
| XM_017018202.1:c.1088G>A | XP_016873691.1:p.Arg363Gln | |
| XM_017018204.1:c.479G>A | XP_016873693.1:p.Arg160Gln | |
| XM_024448668.1:c.890G>A | XP_024304436.1:p.Arg297Gln | |
| XR_001747945.2:n.2663G>A | ||
| XR_001747946.2:n.2594G>A | ||
| XR_002957189.1:n.2663G>A | ||
| NM_000352.6:c.2522G>A MANE Select | NP_000343.2:p.Arg841Gln | |
| NM_001287174.2:c.2525G>A | NP_001274103.1:p.Arg842Gln | |
| NM_001351295.2:c.2588G>A | NP_001338224.1:p.Arg863Gln | |
| NM_001351296.2:c.2522G>A | NP_001338225.1:p.Arg841Gln | |
| NM_001351297.2:c.2519G>A | NP_001338226.1:p.Arg840Gln | |
| NR_147094.2:n.2591G>A | ||
| NM_001287174.3:c.2525G>A | NP_001274103.1:p.Arg842Gln |