Linked Data
dbSNP Id:
rs1201005889
gnomAD v2:
11-17417210-G-T
gnomAD v3:
11-17395663-G-T
gnomAD v4:
11-17395663-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395663G>T , CM000673.2:g.17395663G>T | GRCh38 |
| NC_000011.9:g.17417210G>T , CM000673.1:g.17417210G>T | GRCh37 |
| NC_000011.8:g.17373786G>T | NCBI36 |
| NG_008867.1:g.86240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3855C>A | ||
| ENST00000528374.2:c.845C>A | ||
| ENST00000529967.6:n.2593C>A | ||
| ENST00000532220.2:n.3487C>A | ||
| ENST00000642611.2:n.5587C>A | ||
| ENST00000644057.2:n.830C>A | ||
| ENST00000645004.2:n.1753C>A | ||
| ENST00000682051.1:n.4416C>A | ||
| ENST00000682110.1:n.4469C>A | ||
| ENST00000682140.1:c.*40C>A | ENSP00000507829.1:n.*40C>A | |
| ENST00000682185.1:n.5559C>A | ||
| ENST00000682204.1:c.*2392C>A | ENSP00000507094.1:n.*2392C>A | |
| ENST00000682215.1:n.4836C>A | ||
| ENST00000682288.1:c.*2685C>A | ENSP00000507506.1:n.*2685C>A | |
| ENST00000682442.1:n.4689C>A | ||
| ENST00000682528.1:n.4546C>A | ||
| ENST00000682673.1:n.4413C>A | ||
| ENST00000682805.1:n.4874C>A | ||
| ENST00000682965.1:c.*676C>A | ENSP00000508229.1:n.*676C>A | |
| ENST00000683093.1:n.5553C>A | ||
| ENST00000683136.1:c.4137C>A | ENSP00000507768.1:p.Arg1379= | |
| ENST00000683153.1:n.4511C>A | ||
| ENST00000683365.1:n.4571C>A | ||
| ENST00000683377.1:n.4469C>A | ||
| ENST00000683456.1:c.*1391C>A | ENSP00000508318.1:n.*1391C>A | |
| ENST00000683522.1:n.4469C>A | ||
| ENST00000683562.1:c.*2423C>A | ENSP00000508265.1:n.*2423C>A | |
| ENST00000683693.1:n.6034C>A | ||
| ENST00000683725.1:c.4254C>A | ENSP00000507496.1:p.Arg1418= | |
| ENST00000684010.1:n.4464C>A | ||
| ENST00000684157.1:n.5454C>A | ||
| ENST00000684253.1:n.4372C>A | ||
| ENST00000684288.1:c.*2426C>A | ENSP00000507143.1:n.*2426C>A | |
| ENST00000684313.1:n.3901C>A | ||
| ENST00000684332.1:n.4542C>A | ||
| ENST00000684371.1:n.4575C>A | ||
| ENST00000684404.1:n.5497C>A | ||
| ENST00000684442.1:n.4693C>A | ||
| ENST00000684555.1:c.*2466C>A | ENSP00000507705.1:n.*2466C>A | |
| ENST00000684571.1:c.4095C>A | ENSP00000506935.1:p.Arg1365= | |
| ENST00000684593.1:c.*3959C>A | ENSP00000507005.1:n.*3959C>A | |
| ENST00000684711.1:c.*2650C>A | ENSP00000506841.1:n.*2650C>A | |
| ENST00000302539.9:c.4257C>A | ENSP00000303960.4:p.Arg1419= | |
| ENST00000389817.8:c.4254C>A MANE Select | ENSP00000374467.4:p.Arg1418= | |
| ENST00000642271.1:c.4251C>A | ENSP00000493749.1:p.Arg1417= | |
| ENST00000642579.1:c.2308C>A | ||
| ENST00000642611.1:n.5472C>A | ||
| ENST00000642902.1:c.4036C>A | ||
| ENST00000643260.1:c.4254C>A | ENSP00000494450.1:p.Arg1418= | |
| ENST00000643562.1:c.*2376C>A | ENSP00000496124.1:n.*2376C>A | |
| ENST00000643925.1:c.2894C>A | ||
| ENST00000644057.1:n.331C>A | ||
| ENST00000644484.1:c.*3640C>A | ENSP00000493558.1:n.*3640C>A | |
| ENST00000644675.1:c.*2426C>A | ENSP00000494567.1:n.*2426C>A | |
| ENST00000644757.1:c.*3202+601C>A | ENSP00000495085.1:n.*3202+601C>A | |
| ENST00000644772.1:c.4320C>A | ENSP00000494321.1:p.Arg1440= | |
| ENST00000645004.1:n.1947C>A | ||
| ENST00000645076.1:c.3453C>A | ||
| ENST00000645417.1:c.1442C>A | ||
| ENST00000645744.1:c.*3964-25C>A | ENSP00000494564.1:n.*3964-25C>A | |
| ENST00000645760.1:c.4675C>A | ||
| ENST00000645884.1:c.*1537C>A | ENSP00000495516.1:n.*1537C>A | |
| ENST00000646003.1:c.*2301-25C>A | ENSP00000495259.1:n.*2301-25C>A | |
| ENST00000646207.1:c.*3091C>A | ENSP00000495025.1:n.*3091C>A | |
| ENST00000646276.1:c.*3658C>A | ENSP00000496070.1:n.*3658C>A | |
| ENST00000646592.1:c.3560C>A | ||
| ENST00000646902.1:c.4221C>A | ENSP00000494101.1:p.Arg1407= | |
| ENST00000646993.1:c.*2796C>A | ENSP00000493720.1:n.*2796C>A | |
| ENST00000647013.1:c.4260C>A | ENSP00000496741.1:n.4260C>A | |
| ENST00000647015.1:c.4005C>A | ENSP00000495389.1:p.Arg1335= | |
| ENST00000647086.1:c.*3840C>A | ENSP00000493677.1:n.*3840C>A | |
| ENST00000647158.1:c.*2541C>A | ENSP00000495744.1:n.*2541C>A | |
| ENST00000302539.8:c.4257C>A | ENSP00000303960.4:p.Arg1419= | |
| ENST00000389817.7:c.4254C>A | ENSP00000374467.3:p.Arg1418= | |
| ENST00000525022.1:n.253C>A | ||
| ENST00000526037.5:n.118C>A | ||
| ENST00000526168.5:c.67-25C>A | ||
| ENST00000531642.5:c.90C>A | ||
| NM_000352.4:c.4254C>A | NP_000343.2:p.Arg1418= | |
| NM_001287174.1:c.4257C>A | NP_001274103.1:p.Arg1419= | |
| XM_011520331.1:c.4254C>A | XP_011518633.1:p.Arg1418= | |
| XM_011520332.1:c.4257C>A | XP_011518634.1:p.Arg1419= | |
| XM_011520333.1:c.2754C>A | XP_011518635.1:p.Arg918= | |
| XR_930890.1:n.4320C>A | ||
| NM_001351295.1:c.4320C>A | NP_001338224.1:p.Arg1440= | |
| NM_001351296.1:c.4254C>A | NP_001338225.1:p.Arg1418= | |
| NM_001351297.1:c.4251C>A | NP_001338226.1:p.Arg1417= | |
| NR_147094.1:n.4549C>A | ||
| XM_017018197.2:c.4323C>A | XP_016873686.1:p.Arg1441= | |
| XM_017018199.1:c.4320C>A | XP_016873688.1:p.Arg1440= | |
| XM_017018201.2:c.4323C>A | XP_016873690.1:p.Arg1441= | |
| XM_017018202.1:c.2820C>A | XP_016873691.1:p.Arg940= | |
| XM_017018204.1:c.2211C>A | XP_016873693.1:p.Arg737= | |
| XM_024448668.1:c.2622C>A | XP_024304436.1:p.Arg874= | |
| XR_001747945.2:n.4395C>A | ||
| XR_001747946.2:n.4326C>A | ||
| XR_002957189.1:n.6109C>A | ||
| NM_000352.6:c.4254C>A MANE Select | NP_000343.2:p.Arg1418= | |
| NM_001287174.2:c.4257C>A | NP_001274103.1:p.Arg1419= | |
| NM_001351295.2:c.4320C>A | NP_001338224.1:p.Arg1440= | |
| NM_001351296.2:c.4254C>A | NP_001338225.1:p.Arg1418= | |
| NM_001351297.2:c.4251C>A | NP_001338226.1:p.Arg1417= | |
| NR_147094.2:n.4549C>A | ||
| NM_001287174.3:c.4257C>A | NP_001274103.1:p.Arg1419= |