Linked Data
dbSNP Id:
rs780718623
ExAC:
11:17417407 G / C
gnomAD v2:
11-17417407-G-C
gnomAD v4:
11-17395860-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395860G>C , CM000673.2:g.17395860G>C | GRCh38 |
| NC_000011.9:g.17417407G>C , CM000673.1:g.17417407G>C | GRCh37 |
| NC_000011.8:g.17373983G>C | NCBI36 |
| NG_008867.1:g.86043C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3791C>G | ||
| ENST00000528374.2:c.781C>G | ||
| ENST00000529967.6:n.2529C>G | ||
| ENST00000532220.2:n.3423C>G | ||
| ENST00000642611.2:n.5390C>G | ||
| ENST00000644057.2:n.633C>G | ||
| ENST00000645004.2:n.1689C>G | ||
| ENST00000682051.1:n.4352C>G | ||
| ENST00000682110.1:n.4405C>G | ||
| ENST00000682140.1:c.4056C>G | ENSP00000507829.1:p.His1352Gln | |
| ENST00000682185.1:n.5495C>G | ||
| ENST00000682204.1:c.*2328C>G | ENSP00000507094.1:n.*2328C>G | |
| ENST00000682215.1:n.4772C>G | ||
| ENST00000682288.1:c.*2621C>G | ENSP00000507506.1:n.*2621C>G | |
| ENST00000682442.1:n.4625C>G | ||
| ENST00000682528.1:n.4482C>G | ||
| ENST00000682673.1:n.4349C>G | ||
| ENST00000682805.1:n.4810C>G | ||
| ENST00000682965.1:c.*612C>G | ENSP00000508229.1:n.*612C>G | |
| ENST00000683093.1:n.5489C>G | ||
| ENST00000683136.1:c.4073C>G | ENSP00000507768.1:p.Thr1358Arg | |
| ENST00000683153.1:n.4447C>G | ||
| ENST00000683365.1:n.4507C>G | ||
| ENST00000683377.1:n.4405C>G | ||
| ENST00000683456.1:c.*1327C>G | ENSP00000508318.1:n.*1327C>G | |
| ENST00000683522.1:n.4405C>G | ||
| ENST00000683562.1:c.*2359C>G | ENSP00000508265.1:n.*2359C>G | |
| ENST00000683693.1:n.5837C>G | ||
| ENST00000683725.1:c.4190C>G | ENSP00000507496.1:p.Thr1397Arg | |
| ENST00000684010.1:n.4400C>G | ||
| ENST00000684157.1:n.5390C>G | ||
| ENST00000684253.1:n.4308C>G | ||
| ENST00000684288.1:c.*2362C>G | ENSP00000507143.1:n.*2362C>G | |
| ENST00000684313.1:n.3837C>G | ||
| ENST00000684332.1:n.4478C>G | ||
| ENST00000684371.1:n.4511C>G | ||
| ENST00000684404.1:n.5433C>G | ||
| ENST00000684442.1:n.4629C>G | ||
| ENST00000684555.1:c.*2402C>G | ENSP00000507705.1:n.*2402C>G | |
| ENST00000684571.1:c.4031C>G | ENSP00000506935.1:p.Thr1344Arg | |
| ENST00000684593.1:c.*3895C>G | ENSP00000507005.1:n.*3895C>G | |
| ENST00000684711.1:c.*2586C>G | ENSP00000506841.1:n.*2586C>G | |
| ENST00000302539.9:c.4193C>G | ENSP00000303960.4:p.Thr1398Arg | |
| ENST00000389817.8:c.4190C>G MANE Select | ENSP00000374467.4:p.Thr1397Arg | |
| ENST00000642271.1:c.4187C>G | ENSP00000493749.1:p.Thr1396Arg | |
| ENST00000642579.1:c.2244C>G | ||
| ENST00000642611.1:n.5275C>G | ||
| ENST00000642902.1:c.3972C>G | ||
| ENST00000643260.1:c.4190C>G | ENSP00000494450.1:p.Thr1397Arg | |
| ENST00000643562.1:c.*2312C>G | ENSP00000496124.1:n.*2312C>G | |
| ENST00000643925.1:c.2830C>G | ||
| ENST00000644057.1:n.267C>G | ||
| ENST00000644484.1:c.*3576C>G | ENSP00000493558.1:n.*3576C>G | |
| ENST00000644675.1:c.*2362C>G | ENSP00000494567.1:n.*2362C>G | |
| ENST00000644757.1:c.*3202+404C>G | ENSP00000495085.1:n.*3202+404C>G | |
| ENST00000644772.1:c.4256C>G | ENSP00000494321.1:p.Thr1419Arg | |
| ENST00000645004.1:n.1883C>G | ||
| ENST00000645076.1:c.3389C>G | ||
| ENST00000645417.1:c.1378C>G | ||
| ENST00000645744.1:c.*3955C>G | ENSP00000494564.1:n.*3955C>G | |
| ENST00000645760.1:c.4611C>G | ||
| ENST00000645884.1:c.*1473C>G | ENSP00000495516.1:n.*1473C>G | |
| ENST00000646003.1:c.*2292C>G | ENSP00000495259.1:n.*2292C>G | |
| ENST00000646207.1:c.*3027C>G | ENSP00000495025.1:n.*3027C>G | |
| ENST00000646276.1:c.*3594C>G | ENSP00000496070.1:n.*3594C>G | |
| ENST00000646592.1:c.3496C>G | ||
| ENST00000646902.1:c.4157C>G | ENSP00000494101.1:p.Thr1386Arg | |
| ENST00000646993.1:c.*2732C>G | ENSP00000493720.1:n.*2732C>G | |
| ENST00000647013.1:c.4196C>G | ENSP00000496741.1:n.4196C>G | |
| ENST00000647015.1:c.3941C>G | ENSP00000495389.1:p.Thr1314Arg | |
| ENST00000647086.1:c.*3776C>G | ENSP00000493677.1:n.*3776C>G | |
| ENST00000647158.1:c.*2477C>G | ENSP00000495744.1:n.*2477C>G | |
| ENST00000302539.8:c.4193C>G | ENSP00000303960.4:p.Thr1398Arg | |
| ENST00000389817.7:c.4190C>G | ENSP00000374467.3:p.Thr1397Arg | |
| ENST00000525022.1:n.56C>G | ||
| ENST00000526168.5:c.58C>G | ||
| ENST00000531642.5:c.26C>G | ||
| NM_000352.4:c.4190C>G | NP_000343.2:p.Thr1397Arg | |
| NM_001287174.1:c.4193C>G | NP_001274103.1:p.Thr1398Arg | |
| XM_011520331.1:c.4190C>G | XP_011518633.1:p.Thr1397Arg | |
| XM_011520332.1:c.4193C>G | XP_011518634.1:p.Thr1398Arg | |
| XM_011520333.1:c.2690C>G | XP_011518635.1:p.Thr897Arg | |
| XR_930890.1:n.4256C>G | ||
| NM_001351295.1:c.4256C>G | NP_001338224.1:p.Thr1419Arg | |
| NM_001351296.1:c.4190C>G | NP_001338225.1:p.Thr1397Arg | |
| NM_001351297.1:c.4187C>G | NP_001338226.1:p.Thr1396Arg | |
| NR_147094.1:n.4485C>G | ||
| XM_017018197.2:c.4259C>G | XP_016873686.1:p.Thr1420Arg | |
| XM_017018199.1:c.4256C>G | XP_016873688.1:p.Thr1419Arg | |
| XM_017018201.2:c.4259C>G | XP_016873690.1:p.Thr1420Arg | |
| XM_017018202.1:c.2756C>G | XP_016873691.1:p.Thr919Arg | |
| XM_017018204.1:c.2147C>G | XP_016873693.1:p.Thr716Arg | |
| XM_024448668.1:c.2558C>G | XP_024304436.1:p.Thr853Arg | |
| XR_001747945.2:n.4331C>G | ||
| XR_001747946.2:n.4262C>G | ||
| XR_002957189.1:n.5912C>G | ||
| NM_000352.6:c.4190C>G MANE Select | NP_000343.2:p.Thr1397Arg | |
| NM_001287174.2:c.4193C>G | NP_001274103.1:p.Thr1398Arg | |
| NM_001351295.2:c.4256C>G | NP_001338224.1:p.Thr1419Arg | |
| NM_001351296.2:c.4190C>G | NP_001338225.1:p.Thr1397Arg | |
| NM_001351297.2:c.4187C>G | NP_001338226.1:p.Thr1396Arg | |
| NR_147094.2:n.4485C>G | ||
| NM_001287174.3:c.4193C>G | NP_001274103.1:p.Thr1398Arg |