Linked Data
ClinVar Variation Id:
2832469
ClinVar RCV Id:
RCV003689515
MyVariant Identifiers:
chr11:g.17418484G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396937G>A , CM000673.2:g.17396937G>A | GRCh38 |
| NC_000011.9:g.17418484G>A , CM000673.1:g.17418484G>A | GRCh37 |
| NC_000011.8:g.17375060G>A | NCBI36 |
| NG_008867.1:g.84966C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3699C>T | ||
| ENST00000528374.2:c.689C>T | ||
| ENST00000529967.6:n.2437C>T | ||
| ENST00000532220.2:n.2346C>T | ||
| ENST00000642611.2:n.4313C>T | ||
| ENST00000644057.2:n.541C>T | ||
| ENST00000645004.2:n.1597C>T | ||
| ENST00000682051.1:n.4260C>T | ||
| ENST00000682110.1:n.4313C>T | ||
| ENST00000682140.1:c.3985+256C>T | ENSP00000507829.1:n.3985+256C>T | |
| ENST00000682185.1:n.5403C>T | ||
| ENST00000682204.1:c.*2236C>T | ENSP00000507094.1:n.*2236C>T | |
| ENST00000682215.1:n.4680C>T | ||
| ENST00000682288.1:c.*2529C>T | ENSP00000507506.1:n.*2529C>T | |
| ENST00000682442.1:n.4533C>T | ||
| ENST00000682528.1:n.4390C>T | ||
| ENST00000682673.1:n.4257C>T | ||
| ENST00000682805.1:n.4680C>T | ||
| ENST00000682965.1:c.*520C>T | ENSP00000508229.1:n.*520C>T | |
| ENST00000683093.1:n.4412C>T | ||
| ENST00000683136.1:c.3981C>T | ENSP00000507768.1:p.Ala1327= | |
| ENST00000683153.1:n.4355C>T | ||
| ENST00000683365.1:n.4415C>T | ||
| ENST00000683377.1:n.4313C>T | ||
| ENST00000683456.1:c.*1235C>T | ENSP00000508318.1:n.*1235C>T | |
| ENST00000683522.1:n.4313C>T | ||
| ENST00000683562.1:c.*2267C>T | ENSP00000508265.1:n.*2267C>T | |
| ENST00000683693.1:n.4760C>T | ||
| ENST00000683725.1:c.4098C>T | ENSP00000507496.1:p.Ala1366= | |
| ENST00000684010.1:n.4308C>T | ||
| ENST00000684157.1:n.4313C>T | ||
| ENST00000684253.1:n.4216C>T | ||
| ENST00000684288.1:c.*2270C>T | ENSP00000507143.1:n.*2270C>T | |
| ENST00000684313.1:n.3745C>T | ||
| ENST00000684332.1:n.4386C>T | ||
| ENST00000684371.1:n.4419C>T | ||
| ENST00000684404.1:n.4356C>T | ||
| ENST00000684442.1:n.4537C>T | ||
| ENST00000684555.1:c.*2310C>T | ENSP00000507705.1:n.*2310C>T | |
| ENST00000684571.1:c.3939C>T | ENSP00000506935.1:p.Ala1313= | |
| ENST00000684593.1:c.*3803C>T | ENSP00000507005.1:n.*3803C>T | |
| ENST00000684711.1:c.*2494C>T | ENSP00000506841.1:n.*2494C>T | |
| ENST00000302539.9:c.4101C>T | ENSP00000303960.4:p.Ala1367= | |
| ENST00000389817.8:c.4098C>T MANE Select | ENSP00000374467.4:p.Ala1366= | |
| ENST00000642271.1:c.4095C>T | ENSP00000493749.1:p.Ala1365= | |
| ENST00000642579.1:c.2152C>T | ||
| ENST00000642611.1:n.4198C>T | ||
| ENST00000642902.1:c.3880C>T | ||
| ENST00000643260.1:c.4098C>T | ENSP00000494450.1:p.Ala1366= | |
| ENST00000643562.1:c.*2220C>T | ENSP00000496124.1:n.*2220C>T | |
| ENST00000643925.1:c.2738C>T | ||
| ENST00000644057.1:n.175C>T | ||
| ENST00000644484.1:c.*2499C>T | ENSP00000493558.1:n.*2499C>T | |
| ENST00000644675.1:c.*2270C>T | ENSP00000494567.1:n.*2270C>T | |
| ENST00000644757.1:c.*2529C>T | ENSP00000495085.1:n.*2529C>T | |
| ENST00000644772.1:c.4164C>T | ENSP00000494321.1:p.Ala1388= | |
| ENST00000645004.1:n.1753C>T | ||
| ENST00000645076.1:c.3297C>T | ||
| ENST00000645417.1:c.1286C>T | ||
| ENST00000645744.1:c.*2878C>T | ENSP00000494564.1:n.*2878C>T | |
| ENST00000645760.1:c.4519C>T | ||
| ENST00000645884.1:c.*1381C>T | ENSP00000495516.1:n.*1381C>T | |
| ENST00000646003.1:c.*2200C>T | ENSP00000495259.1:n.*2200C>T | |
| ENST00000646207.1:c.*2935C>T | ENSP00000495025.1:n.*2935C>T | |
| ENST00000646276.1:c.*2517C>T | ENSP00000496070.1:n.*2517C>T | |
| ENST00000646592.1:c.3404C>T | ||
| ENST00000646902.1:c.4065C>T | ENSP00000494101.1:p.Ala1355= | |
| ENST00000646993.1:c.*2640C>T | ENSP00000493720.1:n.*2640C>T | |
| ENST00000647013.1:c.4104C>T | ENSP00000496741.1:n.4104C>T | |
| ENST00000647015.1:c.3849C>T | ENSP00000495389.1:p.Ala1283= | |
| ENST00000647086.1:c.*3684C>T | ENSP00000493677.1:n.*3684C>T | |
| ENST00000647158.1:c.*2385C>T | ENSP00000495744.1:n.*2385C>T | |
| ENST00000302539.8:c.4101C>T | ENSP00000303960.4:p.Ala1367= | |
| ENST00000389817.7:c.4098C>T | ENSP00000374467.3:p.Ala1366= | |
| ENST00000527905.5:c.*1120C>T | ENSP00000431653.1:n.*1120C>T | |
| ENST00000528374.1:c.580C>T | ||
| ENST00000531137.1:n.663C>T | ||
| ENST00000531891.1:c.436C>T | ||
| ENST00000532220.1:n.572C>T | ||
| NM_000352.4:c.4098C>T | NP_000343.2:p.Ala1366= | |
| NM_001287174.1:c.4101C>T | NP_001274103.1:p.Ala1367= | |
| XM_011520331.1:c.4098C>T | XP_011518633.1:p.Ala1366= | |
| XM_011520332.1:c.4101C>T | XP_011518634.1:p.Ala1367= | |
| XM_011520333.1:c.2598C>T | XP_011518635.1:p.Ala866= | |
| XR_930890.1:n.4164C>T | ||
| NM_001351295.1:c.4164C>T | NP_001338224.1:p.Ala1388= | |
| NM_001351296.1:c.4098C>T | NP_001338225.1:p.Ala1366= | |
| NM_001351297.1:c.4095C>T | NP_001338226.1:p.Ala1365= | |
| NR_147094.1:n.4393C>T | ||
| XM_017018197.2:c.4167C>T | XP_016873686.1:p.Ala1389= | |
| XM_017018199.1:c.4164C>T | XP_016873688.1:p.Ala1388= | |
| XM_017018201.2:c.4167C>T | XP_016873690.1:p.Ala1389= | |
| XM_017018202.1:c.2664C>T | XP_016873691.1:p.Ala888= | |
| XM_017018204.1:c.2055C>T | XP_016873693.1:p.Ala685= | |
| XM_024448668.1:c.2466C>T | XP_024304436.1:p.Ala822= | |
| XR_001747945.2:n.4239C>T | ||
| XR_001747946.2:n.4170C>T | ||
| XR_002957189.1:n.4835C>T | ||
| NM_000352.6:c.4098C>T MANE Select | NP_000343.2:p.Ala1366= | |
| NM_001287174.2:c.4101C>T | NP_001274103.1:p.Ala1367= | |
| NM_001351295.2:c.4164C>T | NP_001338224.1:p.Ala1388= | |
| NM_001351296.2:c.4098C>T | NP_001338225.1:p.Ala1366= | |
| NM_001351297.2:c.4095C>T | NP_001338226.1:p.Ala1365= | |
| NR_147094.2:n.4393C>T | ||
| NM_001287174.3:c.4101C>T | NP_001274103.1:p.Ala1367= |