Linked Data
ClinVar Variation Id:
370163
dbSNP Id:
rs1057516281
gnomAD v3:
11-17398344-G-A
gnomAD v4:
11-17398344-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17398344G>A , CM000673.2:g.17398344G>A | GRCh38 |
| NC_000011.9:g.17419891G>A , CM000673.1:g.17419891G>A | GRCh37 |
| NC_000011.8:g.17376467G>A | NCBI36 |
| NG_008867.1:g.83559C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3317C>T | ||
| ENST00000528374.2:c.327C>T | ||
| ENST00000529967.6:n.2087C>T | ||
| ENST00000532220.2:n.1480C>T | ||
| ENST00000642611.2:n.3817C>T | ||
| ENST00000644057.2:n.191C>T | ||
| ENST00000645004.2:n.1247C>T | ||
| ENST00000682051.1:n.3764C>T | ||
| ENST00000682110.1:n.3817C>T | ||
| ENST00000682140.1:c.3745C>T | ENSP00000507829.1:p.Arg1249Ter | |
| ENST00000682185.1:n.5053C>T | ||
| ENST00000682204.1:c.*1886C>T | ENSP00000507094.1:n.*1886C>T | |
| ENST00000682215.1:n.3814C>T | ||
| ENST00000682288.1:c.*2179C>T | ENSP00000507506.1:n.*2179C>T | |
| ENST00000682442.1:n.4037C>T | ||
| ENST00000682528.1:n.3894C>T | ||
| ENST00000682673.1:n.3761C>T | ||
| ENST00000682805.1:n.3814C>T | ||
| ENST00000682965.1:c.*170C>T | ENSP00000508229.1:n.*170C>T | |
| ENST00000683093.1:n.3916C>T | ||
| ENST00000683136.1:c.3745C>T | ENSP00000507768.1:p.Arg1249Ter | |
| ENST00000683153.1:n.3973C>T | ||
| ENST00000683365.1:n.3919C>T | ||
| ENST00000683377.1:n.3817C>T | ||
| ENST00000683456.1:c.*885C>T | ENSP00000508318.1:n.*885C>T | |
| ENST00000683522.1:n.3817C>T | ||
| ENST00000683562.1:c.*1917C>T | ENSP00000508265.1:n.*1917C>T | |
| ENST00000683693.1:n.3894C>T | ||
| ENST00000683725.1:c.3748C>T | ENSP00000507496.1:p.Arg1250Ter | |
| ENST00000684010.1:n.3812C>T | ||
| ENST00000684157.1:n.3817C>T | ||
| ENST00000684253.1:n.3720C>T | ||
| ENST00000684288.1:c.*1920C>T | ENSP00000507143.1:n.*1920C>T | |
| ENST00000684313.1:n.3249C>T | ||
| ENST00000684332.1:n.3890C>T | ||
| ENST00000684371.1:n.3923C>T | ||
| ENST00000684404.1:n.3860C>T | ||
| ENST00000684442.1:n.3817C>T | ||
| ENST00000684555.1:c.*1960C>T | ENSP00000507705.1:n.*1960C>T | |
| ENST00000684571.1:c.3589C>T | ENSP00000506935.1:p.Arg1197Ter | |
| ENST00000684593.1:c.*3453C>T | ENSP00000507005.1:n.*3453C>T | |
| ENST00000684711.1:c.*2144C>T | ENSP00000506841.1:n.*2144C>T | |
| ENST00000302539.9:c.3751C>T | ENSP00000303960.4:p.Arg1251Ter | |
| ENST00000389817.8:c.3748C>T MANE Select | ENSP00000374467.4:p.Arg1250Ter | |
| ENST00000642271.1:c.3745C>T | ENSP00000493749.1:p.Arg1249Ter | |
| ENST00000642579.1:c.1832C>T | ||
| ENST00000642611.1:n.3702C>T | ||
| ENST00000642902.1:c.3530C>T | ||
| ENST00000643260.1:c.3748C>T | ENSP00000494450.1:p.Arg1250Ter | |
| ENST00000643562.1:c.*1724C>T | ENSP00000496124.1:n.*1724C>T | |
| ENST00000643925.1:c.1872C>T | ||
| ENST00000644447.1:c.2199C>T | ENSP00000496282.1:n.2199C>T | |
| ENST00000644484.1:c.*2003C>T | ENSP00000493558.1:n.*2003C>T | |
| ENST00000644675.1:c.*1920C>T | ENSP00000494567.1:n.*1920C>T | |
| ENST00000644757.1:c.*2033C>T | ENSP00000495085.1:n.*2033C>T | |
| ENST00000644772.1:c.3814C>T | ENSP00000494321.1:p.Arg1272Ter | |
| ENST00000645004.1:n.887C>T | ||
| ENST00000645076.1:c.2947C>T | ||
| ENST00000645417.1:c.936C>T | ||
| ENST00000645744.1:c.*2012C>T | ENSP00000494564.1:n.*2012C>T | |
| ENST00000645760.1:c.4023C>T | ||
| ENST00000645884.1:c.*885C>T | ENSP00000495516.1:n.*885C>T | |
| ENST00000646003.1:c.*1704C>T | ENSP00000495259.1:n.*1704C>T | |
| ENST00000646207.1:c.*2215C>T | ENSP00000495025.1:n.*2215C>T | |
| ENST00000646276.1:c.*2021C>T | ENSP00000496070.1:n.*2021C>T | |
| ENST00000646592.1:c.3054C>T | ||
| ENST00000646902.1:c.3745C>T | ENSP00000494101.1:p.Arg1249Ter | |
| ENST00000646993.1:c.*2144C>T | ENSP00000493720.1:n.*2144C>T | |
| ENST00000647013.1:c.3754C>T | ENSP00000496741.1:n.3754C>T | |
| ENST00000647015.1:c.3499C>T | ENSP00000495389.1:p.Arg1167Ter | |
| ENST00000647086.1:c.*3478C>T | ENSP00000493677.1:n.*3478C>T | |
| ENST00000647158.1:c.*1889C>T | ENSP00000495744.1:n.*1889C>T | |
| ENST00000302539.8:c.3751C>T | ENSP00000303960.4:p.Arg1251Ter | |
| ENST00000389817.7:c.3748C>T | ENSP00000374467.3:p.Arg1250Ter | |
| ENST00000527905.5:c.*624C>T | ENSP00000431653.1:n.*624C>T | |
| ENST00000528374.1:c.218C>T | ||
| ENST00000531137.1:n.167C>T | ||
| ENST00000531891.1:c.116C>T | ||
| NM_000352.4:c.3748C>T | NP_000343.2:p.Arg1250Ter | |
| NM_001287174.1:c.3751C>T | NP_001274103.1:p.Arg1251Ter | |
| XM_011520331.1:c.3748C>T | XP_011518633.1:p.Arg1250Ter | |
| XM_011520332.1:c.3751C>T | XP_011518634.1:p.Arg1251Ter | |
| XM_011520333.1:c.2248C>T | XP_011518635.1:p.Arg750Ter | |
| XR_930890.1:n.3814C>T | ||
| XR_930892.1:n.3714C>T | ||
| XR_930893.1:n.3711C>T | ||
| NM_001351295.1:c.3814C>T | NP_001338224.1:p.Arg1272Ter | |
| NM_001351296.1:c.3748C>T | NP_001338225.1:p.Arg1250Ter | |
| NM_001351297.1:c.3745C>T | NP_001338226.1:p.Arg1249Ter | |
| NR_147094.1:n.3897C>T | ||
| XM_017018197.2:c.3817C>T | XP_016873686.1:p.Arg1273Ter | |
| XM_017018199.1:c.3814C>T | XP_016873688.1:p.Arg1272Ter | |
| XM_017018201.2:c.3817C>T | XP_016873690.1:p.Arg1273Ter | |
| XM_017018202.1:c.2314C>T | XP_016873691.1:p.Arg772Ter | |
| XM_017018204.1:c.1705C>T | XP_016873693.1:p.Arg569Ter | |
| XM_024448668.1:c.2116C>T | XP_024304436.1:p.Arg706Ter | |
| XR_001747945.2:n.3889C>T | ||
| XR_001747946.2:n.3820C>T | ||
| XR_002957189.1:n.3969C>T | ||
| NM_000352.6:c.3748C>T MANE Select | NP_000343.2:p.Arg1250Ter | |
| NM_001287174.2:c.3751C>T | NP_001274103.1:p.Arg1251Ter | |
| NM_001351295.2:c.3814C>T | NP_001338224.1:p.Arg1272Ter | |
| NM_001351296.2:c.3748C>T | NP_001338225.1:p.Arg1250Ter | |
| NM_001351297.2:c.3745C>T | NP_001338226.1:p.Arg1249Ter | |
| NR_147094.2:n.3897C>T | ||
| NM_001287174.3:c.3751C>T | NP_001274103.1:p.Arg1251Ter |