Linked Data
ClinVar Variation Id:
794422
dbSNP Id:
rs746249607
ExAC:
11:17417403 G / A
gnomAD v2:
11-17417403-G-A
gnomAD v3:
11-17395856-G-A
gnomAD v4:
11-17395856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395856G>A , CM000673.2:g.17395856G>A | GRCh38 |
| NC_000011.9:g.17417403G>A , CM000673.1:g.17417403G>A | GRCh37 |
| NC_000011.8:g.17373979G>A | NCBI36 |
| NG_008867.1:g.86047C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3795C>T | ||
| ENST00000528374.2:c.785C>T | ||
| ENST00000529967.6:n.2533C>T | ||
| ENST00000532220.2:n.3427C>T | ||
| ENST00000642611.2:n.5394C>T | ||
| ENST00000644057.2:n.637C>T | ||
| ENST00000645004.2:n.1693C>T | ||
| ENST00000682051.1:n.4356C>T | ||
| ENST00000682110.1:n.4409C>T | ||
| ENST00000682140.1:c.4060C>T | ENSP00000507829.1:p.Arg1354Ter | |
| ENST00000682185.1:n.5499C>T | ||
| ENST00000682204.1:c.*2332C>T | ENSP00000507094.1:n.*2332C>T | |
| ENST00000682215.1:n.4776C>T | ||
| ENST00000682288.1:c.*2625C>T | ENSP00000507506.1:n.*2625C>T | |
| ENST00000682442.1:n.4629C>T | ||
| ENST00000682528.1:n.4486C>T | ||
| ENST00000682673.1:n.4353C>T | ||
| ENST00000682805.1:n.4814C>T | ||
| ENST00000682965.1:c.*616C>T | ENSP00000508229.1:n.*616C>T | |
| ENST00000683093.1:n.5493C>T | ||
| ENST00000683136.1:c.4077C>T | ENSP00000507768.1:p.Phe1359= | |
| ENST00000683153.1:n.4451C>T | ||
| ENST00000683365.1:n.4511C>T | ||
| ENST00000683377.1:n.4409C>T | ||
| ENST00000683456.1:c.*1331C>T | ENSP00000508318.1:n.*1331C>T | |
| ENST00000683522.1:n.4409C>T | ||
| ENST00000683562.1:c.*2363C>T | ENSP00000508265.1:n.*2363C>T | |
| ENST00000683693.1:n.5841C>T | ||
| ENST00000683725.1:c.4194C>T | ENSP00000507496.1:p.Phe1398= | |
| ENST00000684010.1:n.4404C>T | ||
| ENST00000684157.1:n.5394C>T | ||
| ENST00000684253.1:n.4312C>T | ||
| ENST00000684288.1:c.*2366C>T | ENSP00000507143.1:n.*2366C>T | |
| ENST00000684313.1:n.3841C>T | ||
| ENST00000684332.1:n.4482C>T | ||
| ENST00000684371.1:n.4515C>T | ||
| ENST00000684404.1:n.5437C>T | ||
| ENST00000684442.1:n.4633C>T | ||
| ENST00000684555.1:c.*2406C>T | ENSP00000507705.1:n.*2406C>T | |
| ENST00000684571.1:c.4035C>T | ENSP00000506935.1:p.Phe1345= | |
| ENST00000684593.1:c.*3899C>T | ENSP00000507005.1:n.*3899C>T | |
| ENST00000684711.1:c.*2590C>T | ENSP00000506841.1:n.*2590C>T | |
| ENST00000302539.9:c.4197C>T | ENSP00000303960.4:p.Phe1399= | |
| ENST00000389817.8:c.4194C>T MANE Select | ENSP00000374467.4:p.Phe1398= | |
| ENST00000642271.1:c.4191C>T | ENSP00000493749.1:p.Phe1397= | |
| ENST00000642579.1:c.2248C>T | ||
| ENST00000642611.1:n.5279C>T | ||
| ENST00000642902.1:c.3976C>T | ||
| ENST00000643260.1:c.4194C>T | ENSP00000494450.1:p.Phe1398= | |
| ENST00000643562.1:c.*2316C>T | ENSP00000496124.1:n.*2316C>T | |
| ENST00000643925.1:c.2834C>T | ||
| ENST00000644057.1:n.271C>T | ||
| ENST00000644484.1:c.*3580C>T | ENSP00000493558.1:n.*3580C>T | |
| ENST00000644675.1:c.*2366C>T | ENSP00000494567.1:n.*2366C>T | |
| ENST00000644757.1:c.*3202+408C>T | ENSP00000495085.1:n.*3202+408C>T | |
| ENST00000644772.1:c.4260C>T | ENSP00000494321.1:p.Phe1420= | |
| ENST00000645004.1:n.1887C>T | ||
| ENST00000645076.1:c.3393C>T | ||
| ENST00000645417.1:c.1382C>T | ||
| ENST00000645744.1:c.*3959C>T | ENSP00000494564.1:n.*3959C>T | |
| ENST00000645760.1:c.4615C>T | ||
| ENST00000645884.1:c.*1477C>T | ENSP00000495516.1:n.*1477C>T | |
| ENST00000646003.1:c.*2296C>T | ENSP00000495259.1:n.*2296C>T | |
| ENST00000646207.1:c.*3031C>T | ENSP00000495025.1:n.*3031C>T | |
| ENST00000646276.1:c.*3598C>T | ENSP00000496070.1:n.*3598C>T | |
| ENST00000646592.1:c.3500C>T | ||
| ENST00000646902.1:c.4161C>T | ENSP00000494101.1:p.Phe1387= | |
| ENST00000646993.1:c.*2736C>T | ENSP00000493720.1:n.*2736C>T | |
| ENST00000647013.1:c.4200C>T | ENSP00000496741.1:n.4200C>T | |
| ENST00000647015.1:c.3945C>T | ENSP00000495389.1:p.Phe1315= | |
| ENST00000647086.1:c.*3780C>T | ENSP00000493677.1:n.*3780C>T | |
| ENST00000647158.1:c.*2481C>T | ENSP00000495744.1:n.*2481C>T | |
| ENST00000302539.8:c.4197C>T | ENSP00000303960.4:p.Phe1399= | |
| ENST00000389817.7:c.4194C>T | ENSP00000374467.3:p.Phe1398= | |
| ENST00000525022.1:n.60C>T | ||
| ENST00000526168.5:c.62C>T | ||
| ENST00000531642.5:c.30C>T | ||
| NM_000352.4:c.4194C>T | NP_000343.2:p.Phe1398= | |
| NM_001287174.1:c.4197C>T | NP_001274103.1:p.Phe1399= | |
| XM_011520331.1:c.4194C>T | XP_011518633.1:p.Phe1398= | |
| XM_011520332.1:c.4197C>T | XP_011518634.1:p.Phe1399= | |
| XM_011520333.1:c.2694C>T | XP_011518635.1:p.Phe898= | |
| XR_930890.1:n.4260C>T | ||
| NM_001351295.1:c.4260C>T | NP_001338224.1:p.Phe1420= | |
| NM_001351296.1:c.4194C>T | NP_001338225.1:p.Phe1398= | |
| NM_001351297.1:c.4191C>T | NP_001338226.1:p.Phe1397= | |
| NR_147094.1:n.4489C>T | ||
| XM_017018197.2:c.4263C>T | XP_016873686.1:p.Phe1421= | |
| XM_017018199.1:c.4260C>T | XP_016873688.1:p.Phe1420= | |
| XM_017018201.2:c.4263C>T | XP_016873690.1:p.Phe1421= | |
| XM_017018202.1:c.2760C>T | XP_016873691.1:p.Phe920= | |
| XM_017018204.1:c.2151C>T | XP_016873693.1:p.Phe717= | |
| XM_024448668.1:c.2562C>T | XP_024304436.1:p.Phe854= | |
| XR_001747945.2:n.4335C>T | ||
| XR_001747946.2:n.4266C>T | ||
| XR_002957189.1:n.5916C>T | ||
| NM_000352.6:c.4194C>T MANE Select | NP_000343.2:p.Phe1398= | |
| NM_001287174.2:c.4197C>T | NP_001274103.1:p.Phe1399= | |
| NM_001351295.2:c.4260C>T | NP_001338224.1:p.Phe1420= | |
| NM_001351296.2:c.4194C>T | NP_001338225.1:p.Phe1398= | |
| NM_001351297.2:c.4191C>T | NP_001338226.1:p.Phe1397= | |
| NR_147094.2:n.4489C>T | ||
| NM_001287174.3:c.4197C>T | NP_001274103.1:p.Phe1399= |