Linked Data
ClinVar Variation Id:
1112550
ClinVar RCV Id:
RCV001439598
dbSNP Id:
rs374602183
ExAC:
11:17418523 G / A
gnomAD v2:
11-17418523-G-A
gnomAD v3:
11-17396976-G-A
gnomAD v4:
11-17396976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396976G>A , CM000673.2:g.17396976G>A | GRCh38 |
| NC_000011.9:g.17418523G>A , CM000673.1:g.17418523G>A | GRCh37 |
| NC_000011.8:g.17375099G>A | NCBI36 |
| NG_008867.1:g.84927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3660C>T | ||
| ENST00000528374.2:c.650C>T | ||
| ENST00000529967.6:n.2398C>T | ||
| ENST00000532220.2:n.2307C>T | ||
| ENST00000642611.2:n.4274C>T | ||
| ENST00000644057.2:n.502C>T | ||
| ENST00000645004.2:n.1558C>T | ||
| ENST00000682051.1:n.4221C>T | ||
| ENST00000682110.1:n.4274C>T | ||
| ENST00000682140.1:c.3985+217C>T | ENSP00000507829.1:n.3985+217C>T | |
| ENST00000682185.1:n.5364C>T | ||
| ENST00000682204.1:c.*2197C>T | ENSP00000507094.1:n.*2197C>T | |
| ENST00000682215.1:n.4641C>T | ||
| ENST00000682288.1:c.*2490C>T | ENSP00000507506.1:n.*2490C>T | |
| ENST00000682442.1:n.4494C>T | ||
| ENST00000682528.1:n.4351C>T | ||
| ENST00000682673.1:n.4218C>T | ||
| ENST00000682805.1:n.4641C>T | ||
| ENST00000682965.1:c.*481C>T | ENSP00000508229.1:n.*481C>T | |
| ENST00000683093.1:n.4373C>T | ||
| ENST00000683136.1:c.3942C>T | ENSP00000507768.1:p.Tyr1314= | |
| ENST00000683153.1:n.4316C>T | ||
| ENST00000683365.1:n.4376C>T | ||
| ENST00000683377.1:n.4274C>T | ||
| ENST00000683456.1:c.*1196C>T | ENSP00000508318.1:n.*1196C>T | |
| ENST00000683522.1:n.4274C>T | ||
| ENST00000683562.1:c.*2228C>T | ENSP00000508265.1:n.*2228C>T | |
| ENST00000683693.1:n.4721C>T | ||
| ENST00000683725.1:c.4059C>T | ENSP00000507496.1:p.Tyr1353= | |
| ENST00000684010.1:n.4269C>T | ||
| ENST00000684157.1:n.4274C>T | ||
| ENST00000684253.1:n.4177C>T | ||
| ENST00000684288.1:c.*2231C>T | ENSP00000507143.1:n.*2231C>T | |
| ENST00000684313.1:n.3706C>T | ||
| ENST00000684332.1:n.4347C>T | ||
| ENST00000684371.1:n.4380C>T | ||
| ENST00000684404.1:n.4317C>T | ||
| ENST00000684442.1:n.4498C>T | ||
| ENST00000684555.1:c.*2271C>T | ENSP00000507705.1:n.*2271C>T | |
| ENST00000684571.1:c.3900C>T | ENSP00000506935.1:p.Tyr1300= | |
| ENST00000684593.1:c.*3764C>T | ENSP00000507005.1:n.*3764C>T | |
| ENST00000684711.1:c.*2455C>T | ENSP00000506841.1:n.*2455C>T | |
| ENST00000302539.9:c.4062C>T | ENSP00000303960.4:p.Tyr1354= | |
| ENST00000389817.8:c.4059C>T MANE Select | ENSP00000374467.4:p.Tyr1353= | |
| ENST00000642271.1:c.4056C>T | ENSP00000493749.1:p.Tyr1352= | |
| ENST00000642579.1:c.2113C>T | ||
| ENST00000642611.1:n.4159C>T | ||
| ENST00000642902.1:c.3841C>T | ||
| ENST00000643260.1:c.4059C>T | ENSP00000494450.1:p.Tyr1353= | |
| ENST00000643562.1:c.*2181C>T | ENSP00000496124.1:n.*2181C>T | |
| ENST00000643925.1:c.2699C>T | ||
| ENST00000644057.1:n.136C>T | ||
| ENST00000644484.1:c.*2460C>T | ENSP00000493558.1:n.*2460C>T | |
| ENST00000644675.1:c.*2231C>T | ENSP00000494567.1:n.*2231C>T | |
| ENST00000644757.1:c.*2490C>T | ENSP00000495085.1:n.*2490C>T | |
| ENST00000644772.1:c.4125C>T | ENSP00000494321.1:p.Tyr1375= | |
| ENST00000645004.1:n.1714C>T | ||
| ENST00000645076.1:c.3258C>T | ||
| ENST00000645417.1:c.1247C>T | ||
| ENST00000645744.1:c.*2839C>T | ENSP00000494564.1:n.*2839C>T | |
| ENST00000645760.1:c.4480C>T | ||
| ENST00000645884.1:c.*1342C>T | ENSP00000495516.1:n.*1342C>T | |
| ENST00000646003.1:c.*2161C>T | ENSP00000495259.1:n.*2161C>T | |
| ENST00000646207.1:c.*2896C>T | ENSP00000495025.1:n.*2896C>T | |
| ENST00000646276.1:c.*2478C>T | ENSP00000496070.1:n.*2478C>T | |
| ENST00000646592.1:c.3365C>T | ||
| ENST00000646902.1:c.4026C>T | ENSP00000494101.1:p.Tyr1342= | |
| ENST00000646993.1:c.*2601C>T | ENSP00000493720.1:n.*2601C>T | |
| ENST00000647013.1:c.4065C>T | ENSP00000496741.1:n.4065C>T | |
| ENST00000647015.1:c.3810C>T | ENSP00000495389.1:p.Tyr1270= | |
| ENST00000647086.1:c.*3645C>T | ENSP00000493677.1:n.*3645C>T | |
| ENST00000647158.1:c.*2346C>T | ENSP00000495744.1:n.*2346C>T | |
| ENST00000302539.8:c.4062C>T | ENSP00000303960.4:p.Tyr1354= | |
| ENST00000389817.7:c.4059C>T | ENSP00000374467.3:p.Tyr1353= | |
| ENST00000527905.5:c.*1081C>T | ENSP00000431653.1:n.*1081C>T | |
| ENST00000528374.1:c.541C>T | ||
| ENST00000531137.1:n.624C>T | ||
| ENST00000531891.1:c.397C>T | ||
| ENST00000532220.1:n.533C>T | ||
| NM_000352.4:c.4059C>T | NP_000343.2:p.Tyr1353= | |
| NM_001287174.1:c.4062C>T | NP_001274103.1:p.Tyr1354= | |
| XM_011520331.1:c.4059C>T | XP_011518633.1:p.Tyr1353= | |
| XM_011520332.1:c.4062C>T | XP_011518634.1:p.Tyr1354= | |
| XM_011520333.1:c.2559C>T | XP_011518635.1:p.Tyr853= | |
| XR_930890.1:n.4125C>T | ||
| NM_001351295.1:c.4125C>T | NP_001338224.1:p.Tyr1375= | |
| NM_001351296.1:c.4059C>T | NP_001338225.1:p.Tyr1353= | |
| NM_001351297.1:c.4056C>T | NP_001338226.1:p.Tyr1352= | |
| NR_147094.1:n.4354C>T | ||
| XM_017018197.2:c.4128C>T | XP_016873686.1:p.Tyr1376= | |
| XM_017018199.1:c.4125C>T | XP_016873688.1:p.Tyr1375= | |
| XM_017018201.2:c.4128C>T | XP_016873690.1:p.Tyr1376= | |
| XM_017018202.1:c.2625C>T | XP_016873691.1:p.Tyr875= | |
| XM_017018204.1:c.2016C>T | XP_016873693.1:p.Tyr672= | |
| XM_024448668.1:c.2427C>T | XP_024304436.1:p.Tyr809= | |
| XR_001747945.2:n.4200C>T | ||
| XR_001747946.2:n.4131C>T | ||
| XR_002957189.1:n.4796C>T | ||
| NM_000352.6:c.4059C>T MANE Select | NP_000343.2:p.Tyr1353= | |
| NM_001287174.2:c.4062C>T | NP_001274103.1:p.Tyr1354= | |
| NM_001351295.2:c.4125C>T | NP_001338224.1:p.Tyr1375= | |
| NM_001351296.2:c.4059C>T | NP_001338225.1:p.Tyr1353= | |
| NM_001351297.2:c.4056C>T | NP_001338226.1:p.Tyr1352= | |
| NR_147094.2:n.4354C>T | ||
| NM_001287174.3:c.4062C>T | NP_001274103.1:p.Tyr1354= |