Linked Data
ClinVar Variation Id:
303773
dbSNP Id:
rs202189540
ExAC:
11:17434994 G / T
gnomAD v2:
11-17434994-G-T
gnomAD v3:
11-17413447-G-T
gnomAD v4:
11-17413447-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17413447G>T , CM000673.2:g.17413447G>T | GRCh38 |
| NC_000011.9:g.17434994G>T , CM000673.1:g.17434994G>T | GRCh37 |
| NC_000011.8:g.17391570G>T | NCBI36 |
| NG_008867.1:g.68456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2091C>A | ||
| ENST00000529967.6:n.681C>A | ||
| ENST00000642611.2:n.2491C>A | ||
| ENST00000682051.1:n.2438C>A | ||
| ENST00000682110.1:n.2491C>A | ||
| ENST00000682140.1:c.2419C>A | ENSP00000507829.1:p.Gln807Lys | |
| ENST00000682185.1:n.3727C>A | ||
| ENST00000682204.1:c.*560C>A | ENSP00000507094.1:n.*560C>A | |
| ENST00000682215.1:n.2488C>A | ||
| ENST00000682288.1:c.*853C>A | ENSP00000507506.1:n.*853C>A | |
| ENST00000682442.1:n.2612C>A | ||
| ENST00000682528.1:n.2488C>A | ||
| ENST00000682673.1:n.2435C>A | ||
| ENST00000682805.1:n.2488C>A | ||
| ENST00000682965.1:c.2419C>A | ENSP00000508229.1:p.Gln807Lys | |
| ENST00000683093.1:n.2590C>A | ||
| ENST00000683136.1:c.2419C>A | ENSP00000507768.1:p.Gln807Lys | |
| ENST00000683153.1:n.2647C>A | ||
| ENST00000683365.1:n.2593C>A | ||
| ENST00000683377.1:n.2491C>A | ||
| ENST00000683456.1:c.2422C>A | ENSP00000508318.1:p.Gln808Lys | |
| ENST00000683522.1:n.2491C>A | ||
| ENST00000683562.1:c.*591C>A | ENSP00000508265.1:n.*591C>A | |
| ENST00000683693.1:n.2488C>A | ||
| ENST00000683725.1:c.2422C>A | ENSP00000507496.1:p.Gln808Lys | |
| ENST00000684010.1:n.2460-701C>A | ||
| ENST00000684157.1:n.2491C>A | ||
| ENST00000684253.1:n.2394C>A | ||
| ENST00000684288.1:c.*594C>A | ENSP00000507143.1:n.*594C>A | |
| ENST00000684313.1:n.1923C>A | ||
| ENST00000684332.1:n.2564C>A | ||
| ENST00000684371.1:n.2597C>A | ||
| ENST00000684404.1:n.2488C>A | ||
| ENST00000684442.1:n.2491C>A | ||
| ENST00000684555.1:c.*634C>A | ENSP00000507705.1:n.*634C>A | |
| ENST00000684571.1:c.2263C>A | ENSP00000506935.1:p.Gln755Lys | |
| ENST00000684593.1:c.*2127C>A | ENSP00000507005.1:n.*2127C>A | |
| ENST00000684711.1:c.*818C>A | ENSP00000506841.1:n.*818C>A | |
| ENST00000302539.9:c.2425C>A | ENSP00000303960.4:p.Gln809Lys | |
| ENST00000389817.8:c.2422C>A MANE Select | ENSP00000374467.4:p.Gln808Lys | |
| ENST00000642271.1:c.2419C>A | ENSP00000493749.1:p.Gln807Lys | |
| ENST00000642579.1:c.506C>A | ||
| ENST00000642611.1:n.2376C>A | ||
| ENST00000642902.1:c.2257C>A | ||
| ENST00000643260.1:c.2422C>A | ENSP00000494450.1:p.Gln808Lys | |
| ENST00000643562.1:c.*398C>A | ENSP00000496124.1:n.*398C>A | |
| ENST00000643925.1:c.362C>A | ||
| ENST00000644447.1:c.778C>A | ENSP00000496282.1:p.Gln260Lys | |
| ENST00000644472.1:c.*783C>A | ENSP00000495378.1:n.*783C>A | |
| ENST00000644484.1:c.*631C>A | ENSP00000493558.1:n.*631C>A | |
| ENST00000644542.1:c.*2127C>A | ENSP00000495532.1:n.*2127C>A | |
| ENST00000644675.1:c.*594C>A | ENSP00000494567.1:n.*594C>A | |
| ENST00000644757.1:c.*727C>A | ENSP00000495085.1:n.*727C>A | |
| ENST00000644772.1:c.2488C>A | ENSP00000494321.1:p.Gln830Lys | |
| ENST00000645076.1:c.1674C>A | ||
| ENST00000645744.1:c.*786C>A | ENSP00000494564.1:n.*786C>A | |
| ENST00000645760.1:c.2697C>A | ||
| ENST00000645884.1:c.2422C>A | ENSP00000495516.1:p.Gln808Lys | |
| ENST00000646003.1:c.*532-701C>A | ENSP00000495259.1:n.*532-701C>A | |
| ENST00000646207.1:c.*786C>A | ENSP00000495025.1:n.*786C>A | |
| ENST00000646276.1:c.*695C>A | ENSP00000496070.1:n.*695C>A | |
| ENST00000646592.1:c.1648C>A | ||
| ENST00000646902.1:c.2419C>A | ENSP00000494101.1:p.Gln807Lys | |
| ENST00000646993.1:c.*818C>A | ENSP00000493720.1:n.*818C>A | |
| ENST00000647013.1:c.2428C>A | ENSP00000496741.1:n.2428C>A | |
| ENST00000647015.1:c.2173C>A | ENSP00000495389.1:p.Gln725Lys | |
| ENST00000647086.1:c.*2152C>A | ENSP00000493677.1:n.*2152C>A | |
| ENST00000647158.1:c.*563C>A | ENSP00000495744.1:n.*563C>A | |
| ENST00000302539.8:c.2425C>A | ENSP00000303960.4:p.Gln809Lys | |
| ENST00000389817.7:c.2422C>A | ENSP00000374467.3:p.Gln808Lys | |
| ENST00000526921.5:n.106C>A | ||
| ENST00000527905.5:c.2392C>A | ENSP00000431653.1:p.Gln798Lys | |
| ENST00000529967.5:n.91C>A | ||
| ENST00000530147.5:n.58+32C>A | ||
| ENST00000531911.1:n.536C>A | ||
| NM_000352.4:c.2422C>A | NP_000343.2:p.Gln808Lys | |
| NM_001287174.1:c.2425C>A | NP_001274103.1:p.Gln809Lys | |
| XM_011520331.1:c.2422C>A | XP_011518633.1:p.Gln808Lys | |
| XM_011520332.1:c.2425C>A | XP_011518634.1:p.Gln809Lys | |
| XM_011520333.1:c.922C>A | XP_011518635.1:p.Gln308Lys | |
| XM_011520334.1:c.2425C>A | XP_011518636.1:p.Gln809Lys | |
| XR_930890.1:n.2488C>A | ||
| XR_930891.1:n.2488C>A | ||
| XR_930892.1:n.2488C>A | ||
| XR_930893.1:n.2485C>A | ||
| NM_001351295.1:c.2488C>A | NP_001338224.1:p.Gln830Lys | |
| NM_001351296.1:c.2422C>A | NP_001338225.1:p.Gln808Lys | |
| NM_001351297.1:c.2419C>A | NP_001338226.1:p.Gln807Lys | |
| NR_147094.1:n.2491C>A | ||
| XM_017018197.2:c.2491C>A | XP_016873686.1:p.Gln831Lys | |
| XM_017018199.1:c.2488C>A | XP_016873688.1:p.Gln830Lys | |
| XM_017018201.2:c.2491C>A | XP_016873690.1:p.Gln831Lys | |
| XM_017018202.1:c.988C>A | XP_016873691.1:p.Gln330Lys | |
| XM_017018204.1:c.379C>A | XP_016873693.1:p.Gln127Lys | |
| XM_024448668.1:c.790C>A | XP_024304436.1:p.Gln264Lys | |
| XR_001747945.2:n.2563C>A | ||
| XR_001747946.2:n.2494C>A | ||
| XR_002957189.1:n.2563C>A | ||
| NM_000352.6:c.2422C>A MANE Select | NP_000343.2:p.Gln808Lys | |
| NM_001287174.2:c.2425C>A | NP_001274103.1:p.Gln809Lys | |
| NM_001351295.2:c.2488C>A | NP_001338224.1:p.Gln830Lys | |
| NM_001351296.2:c.2422C>A | NP_001338225.1:p.Gln808Lys | |
| NM_001351297.2:c.2419C>A | NP_001338226.1:p.Gln807Lys | |
| NR_147094.2:n.2491C>A | ||
| NM_001287174.3:c.2425C>A | NP_001274103.1:p.Gln809Lys |