Linked Data
ClinVar Variation Id:
235633
dbSNP Id:
rs139964066
ExAC:
11:17424218 G / A
gnomAD v2:
11-17424218-G-A
gnomAD v3:
11-17402671-G-A
gnomAD v4:
11-17402671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17402671G>A , CM000673.2:g.17402671G>A | GRCh38 |
| NC_000011.9:g.17424218G>A , CM000673.1:g.17424218G>A | GRCh37 |
| NC_000011.8:g.17380794G>A | NCBI36 |
| NG_008867.1:g.79232C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3209C>T | ||
| ENST00000528374.2:c.219C>T | ||
| ENST00000529967.6:n.1979C>T | ||
| ENST00000532220.2:n.1372C>T | ||
| ENST00000642611.2:n.3709C>T | ||
| ENST00000644057.2:n.83C>T | ||
| ENST00000645004.2:n.1139C>T | ||
| ENST00000682051.1:n.3656C>T | ||
| ENST00000682110.1:n.3709C>T | ||
| ENST00000682140.1:c.3637C>T | ENSP00000507829.1:p.Arg1213Trp | |
| ENST00000682185.1:n.4945C>T | ||
| ENST00000682204.1:c.*1778C>T | ENSP00000507094.1:n.*1778C>T | |
| ENST00000682215.1:n.3706C>T | ||
| ENST00000682288.1:c.*2071C>T | ENSP00000507506.1:n.*2071C>T | |
| ENST00000682442.1:n.3929C>T | ||
| ENST00000682528.1:n.3786C>T | ||
| ENST00000682673.1:n.3653C>T | ||
| ENST00000682805.1:n.3706C>T | ||
| ENST00000682965.1:c.*62C>T | ENSP00000508229.1:n.*62C>T | |
| ENST00000683093.1:n.3808C>T | ||
| ENST00000683136.1:c.3637C>T | ENSP00000507768.1:p.Arg1213Trp | |
| ENST00000683153.1:n.3865C>T | ||
| ENST00000683365.1:n.3811C>T | ||
| ENST00000683377.1:n.3709C>T | ||
| ENST00000683456.1:c.*777C>T | ENSP00000508318.1:n.*777C>T | |
| ENST00000683522.1:n.3709C>T | ||
| ENST00000683562.1:c.*1809C>T | ENSP00000508265.1:n.*1809C>T | |
| ENST00000683693.1:n.3786C>T | ||
| ENST00000683725.1:c.3640C>T | ENSP00000507496.1:p.Arg1214Trp | |
| ENST00000684010.1:n.3704C>T | ||
| ENST00000684157.1:n.3709C>T | ||
| ENST00000684253.1:n.3612C>T | ||
| ENST00000684288.1:c.*1812C>T | ENSP00000507143.1:n.*1812C>T | |
| ENST00000684313.1:n.3141C>T | ||
| ENST00000684332.1:n.3782C>T | ||
| ENST00000684371.1:n.3815C>T | ||
| ENST00000684404.1:n.3752C>T | ||
| ENST00000684442.1:n.3709C>T | ||
| ENST00000684555.1:c.*1852C>T | ENSP00000507705.1:n.*1852C>T | |
| ENST00000684571.1:c.3481C>T | ENSP00000506935.1:p.Arg1161Trp | |
| ENST00000684593.1:c.*3345C>T | ENSP00000507005.1:n.*3345C>T | |
| ENST00000684711.1:c.*2036C>T | ENSP00000506841.1:n.*2036C>T | |
| ENST00000302539.9:c.3643C>T | ENSP00000303960.4:p.Arg1215Trp | |
| ENST00000389817.8:c.3640C>T MANE Select | ENSP00000374467.4:p.Arg1214Trp | |
| ENST00000642271.1:c.3637C>T | ENSP00000493749.1:p.Arg1213Trp | |
| ENST00000642579.1:c.1724C>T | ||
| ENST00000642611.1:n.3594C>T | ||
| ENST00000642902.1:c.3422C>T | ||
| ENST00000643260.1:c.3640C>T | ENSP00000494450.1:p.Arg1214Trp | |
| ENST00000643562.1:c.*1616C>T | ENSP00000496124.1:n.*1616C>T | |
| ENST00000643925.1:c.1764C>T | ||
| ENST00000644447.1:c.1996C>T | ENSP00000496282.1:p.Arg666Trp | |
| ENST00000644484.1:c.*1895C>T | ENSP00000493558.1:n.*1895C>T | |
| ENST00000644675.1:c.*1812C>T | ENSP00000494567.1:n.*1812C>T | |
| ENST00000644757.1:c.*1925C>T | ENSP00000495085.1:n.*1925C>T | |
| ENST00000644772.1:c.3706C>T | ENSP00000494321.1:p.Arg1236Trp | |
| ENST00000645004.1:n.779C>T | ||
| ENST00000645076.1:c.2839C>T | ||
| ENST00000645417.1:c.806C>T | ||
| ENST00000645744.1:c.*1904C>T | ENSP00000494564.1:n.*1904C>T | |
| ENST00000645760.1:c.3915C>T | ||
| ENST00000645884.1:c.*777C>T | ENSP00000495516.1:n.*777C>T | |
| ENST00000646003.1:c.*1596C>T | ENSP00000495259.1:n.*1596C>T | |
| ENST00000646207.1:c.*2107C>T | ENSP00000495025.1:n.*2107C>T | |
| ENST00000646276.1:c.*1913C>T | ENSP00000496070.1:n.*1913C>T | |
| ENST00000646592.1:c.2946C>T | ||
| ENST00000646902.1:c.3637C>T | ENSP00000494101.1:p.Arg1213Trp | |
| ENST00000646993.1:c.*2036C>T | ENSP00000493720.1:n.*2036C>T | |
| ENST00000647013.1:c.3646C>T | ENSP00000496741.1:n.3646C>T | |
| ENST00000647015.1:c.3391C>T | ENSP00000495389.1:p.Arg1131Trp | |
| ENST00000647086.1:c.*3370C>T | ENSP00000493677.1:n.*3370C>T | |
| ENST00000647158.1:c.*1781C>T | ENSP00000495744.1:n.*1781C>T | |
| ENST00000302539.8:c.3643C>T | ENSP00000303960.4:p.Arg1215Trp | |
| ENST00000389817.7:c.3640C>T | ENSP00000374467.3:p.Arg1214Trp | |
| ENST00000527905.5:c.*516C>T | ENSP00000431653.1:n.*516C>T | |
| ENST00000528374.1:c.110C>T | ||
| ENST00000531137.1:n.133C>T | ||
| ENST00000531891.1:c.8C>T | ||
| NM_000352.4:c.3640C>T | NP_000343.2:p.Arg1214Trp | |
| NM_001287174.1:c.3643C>T | NP_001274103.1:p.Arg1215Trp | |
| XM_011520331.1:c.3640C>T | XP_011518633.1:p.Arg1214Trp | |
| XM_011520332.1:c.3643C>T | XP_011518634.1:p.Arg1215Trp | |
| XM_011520333.1:c.2140C>T | XP_011518635.1:p.Arg714Trp | |
| XR_930890.1:n.3706C>T | ||
| XR_930892.1:n.3606C>T | ||
| XR_930893.1:n.3603C>T | ||
| NM_001351295.1:c.3706C>T | NP_001338224.1:p.Arg1236Trp | |
| NM_001351296.1:c.3640C>T | NP_001338225.1:p.Arg1214Trp | |
| NM_001351297.1:c.3637C>T | NP_001338226.1:p.Arg1213Trp | |
| NR_147094.1:n.3789C>T | ||
| XM_017018197.2:c.3709C>T | XP_016873686.1:p.Arg1237Trp | |
| XM_017018199.1:c.3706C>T | XP_016873688.1:p.Arg1236Trp | |
| XM_017018201.2:c.3709C>T | XP_016873690.1:p.Arg1237Trp | |
| XM_017018202.1:c.2206C>T | XP_016873691.1:p.Arg736Trp | |
| XM_017018204.1:c.1597C>T | XP_016873693.1:p.Arg533Trp | |
| XM_024448668.1:c.2008C>T | XP_024304436.1:p.Arg670Trp | |
| XR_001747945.2:n.3781C>T | ||
| XR_001747946.2:n.3712C>T | ||
| XR_002957189.1:n.3861C>T | ||
| NM_000352.6:c.3640C>T MANE Select | NP_000343.2:p.Arg1214Trp | |
| NM_001287174.2:c.3643C>T | NP_001274103.1:p.Arg1215Trp | |
| NM_001351295.2:c.3706C>T | NP_001338224.1:p.Arg1236Trp | |
| NM_001351296.2:c.3640C>T | NP_001338225.1:p.Arg1214Trp | |
| NM_001351297.2:c.3637C>T | NP_001338226.1:p.Arg1213Trp | |
| NR_147094.2:n.3789C>T | ||
| NM_001287174.3:c.3643C>T | NP_001274103.1:p.Arg1215Trp |