Linked Data
ClinVar Variation Id:
2576198
dbSNP Id:
rs377686759
ExAC:
11:17418506 G / A
gnomAD v2:
11-17418506-G-A
gnomAD v3:
11-17396959-G-A
gnomAD v4:
11-17396959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396959G>A , CM000673.2:g.17396959G>A | GRCh38 |
| NC_000011.9:g.17418506G>A , CM000673.1:g.17418506G>A | GRCh37 |
| NC_000011.8:g.17375082G>A | NCBI36 |
| NG_008867.1:g.84944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3677C>T | ||
| ENST00000528374.2:c.667C>T | ||
| ENST00000529967.6:n.2415C>T | ||
| ENST00000532220.2:n.2324C>T | ||
| ENST00000642611.2:n.4291C>T | ||
| ENST00000644057.2:n.519C>T | ||
| ENST00000645004.2:n.1575C>T | ||
| ENST00000682051.1:n.4238C>T | ||
| ENST00000682110.1:n.4291C>T | ||
| ENST00000682140.1:c.3985+234C>T | ENSP00000507829.1:n.3985+234C>T | |
| ENST00000682185.1:n.5381C>T | ||
| ENST00000682204.1:c.*2214C>T | ENSP00000507094.1:n.*2214C>T | |
| ENST00000682215.1:n.4658C>T | ||
| ENST00000682288.1:c.*2507C>T | ENSP00000507506.1:n.*2507C>T | |
| ENST00000682442.1:n.4511C>T | ||
| ENST00000682528.1:n.4368C>T | ||
| ENST00000682673.1:n.4235C>T | ||
| ENST00000682805.1:n.4658C>T | ||
| ENST00000682965.1:c.*498C>T | ENSP00000508229.1:n.*498C>T | |
| ENST00000683093.1:n.4390C>T | ||
| ENST00000683136.1:c.3959C>T | ENSP00000507768.1:p.Pro1320Leu | |
| ENST00000683153.1:n.4333C>T | ||
| ENST00000683365.1:n.4393C>T | ||
| ENST00000683377.1:n.4291C>T | ||
| ENST00000683456.1:c.*1213C>T | ENSP00000508318.1:n.*1213C>T | |
| ENST00000683522.1:n.4291C>T | ||
| ENST00000683562.1:c.*2245C>T | ENSP00000508265.1:n.*2245C>T | |
| ENST00000683693.1:n.4738C>T | ||
| ENST00000683725.1:c.4076C>T | ENSP00000507496.1:p.Pro1359Leu | |
| ENST00000684010.1:n.4286C>T | ||
| ENST00000684157.1:n.4291C>T | ||
| ENST00000684253.1:n.4194C>T | ||
| ENST00000684288.1:c.*2248C>T | ENSP00000507143.1:n.*2248C>T | |
| ENST00000684313.1:n.3723C>T | ||
| ENST00000684332.1:n.4364C>T | ||
| ENST00000684371.1:n.4397C>T | ||
| ENST00000684404.1:n.4334C>T | ||
| ENST00000684442.1:n.4515C>T | ||
| ENST00000684555.1:c.*2288C>T | ENSP00000507705.1:n.*2288C>T | |
| ENST00000684571.1:c.3917C>T | ENSP00000506935.1:p.Pro1306Leu | |
| ENST00000684593.1:c.*3781C>T | ENSP00000507005.1:n.*3781C>T | |
| ENST00000684711.1:c.*2472C>T | ENSP00000506841.1:n.*2472C>T | |
| ENST00000302539.9:c.4079C>T | ENSP00000303960.4:p.Pro1360Leu | |
| ENST00000389817.8:c.4076C>T MANE Select | ENSP00000374467.4:p.Pro1359Leu | |
| ENST00000642271.1:c.4073C>T | ENSP00000493749.1:p.Pro1358Leu | |
| ENST00000642579.1:c.2130C>T | ||
| ENST00000642611.1:n.4176C>T | ||
| ENST00000642902.1:c.3858C>T | ||
| ENST00000643260.1:c.4076C>T | ENSP00000494450.1:p.Pro1359Leu | |
| ENST00000643562.1:c.*2198C>T | ENSP00000496124.1:n.*2198C>T | |
| ENST00000643925.1:c.2716C>T | ||
| ENST00000644057.1:n.153C>T | ||
| ENST00000644484.1:c.*2477C>T | ENSP00000493558.1:n.*2477C>T | |
| ENST00000644675.1:c.*2248C>T | ENSP00000494567.1:n.*2248C>T | |
| ENST00000644757.1:c.*2507C>T | ENSP00000495085.1:n.*2507C>T | |
| ENST00000644772.1:c.4142C>T | ENSP00000494321.1:p.Pro1381Leu | |
| ENST00000645004.1:n.1731C>T | ||
| ENST00000645076.1:c.3275C>T | ||
| ENST00000645417.1:c.1264C>T | ||
| ENST00000645744.1:c.*2856C>T | ENSP00000494564.1:n.*2856C>T | |
| ENST00000645760.1:c.4497C>T | ||
| ENST00000645884.1:c.*1359C>T | ENSP00000495516.1:n.*1359C>T | |
| ENST00000646003.1:c.*2178C>T | ENSP00000495259.1:n.*2178C>T | |
| ENST00000646207.1:c.*2913C>T | ENSP00000495025.1:n.*2913C>T | |
| ENST00000646276.1:c.*2495C>T | ENSP00000496070.1:n.*2495C>T | |
| ENST00000646592.1:c.3382C>T | ||
| ENST00000646902.1:c.4043C>T | ENSP00000494101.1:p.Pro1348Leu | |
| ENST00000646993.1:c.*2618C>T | ENSP00000493720.1:n.*2618C>T | |
| ENST00000647013.1:c.4082C>T | ENSP00000496741.1:n.4082C>T | |
| ENST00000647015.1:c.3827C>T | ENSP00000495389.1:p.Pro1276Leu | |
| ENST00000647086.1:c.*3662C>T | ENSP00000493677.1:n.*3662C>T | |
| ENST00000647158.1:c.*2363C>T | ENSP00000495744.1:n.*2363C>T | |
| ENST00000302539.8:c.4079C>T | ENSP00000303960.4:p.Pro1360Leu | |
| ENST00000389817.7:c.4076C>T | ENSP00000374467.3:p.Pro1359Leu | |
| ENST00000527905.5:c.*1098C>T | ENSP00000431653.1:n.*1098C>T | |
| ENST00000528374.1:c.558C>T | ||
| ENST00000531137.1:n.641C>T | ||
| ENST00000531891.1:c.414C>T | ||
| ENST00000532220.1:n.550C>T | ||
| NM_000352.4:c.4076C>T | NP_000343.2:p.Pro1359Leu | |
| NM_001287174.1:c.4079C>T | NP_001274103.1:p.Pro1360Leu | |
| XM_011520331.1:c.4076C>T | XP_011518633.1:p.Pro1359Leu | |
| XM_011520332.1:c.4079C>T | XP_011518634.1:p.Pro1360Leu | |
| XM_011520333.1:c.2576C>T | XP_011518635.1:p.Pro859Leu | |
| XR_930890.1:n.4142C>T | ||
| NM_001351295.1:c.4142C>T | NP_001338224.1:p.Pro1381Leu | |
| NM_001351296.1:c.4076C>T | NP_001338225.1:p.Pro1359Leu | |
| NM_001351297.1:c.4073C>T | NP_001338226.1:p.Pro1358Leu | |
| NR_147094.1:n.4371C>T | ||
| XM_017018197.2:c.4145C>T | XP_016873686.1:p.Pro1382Leu | |
| XM_017018199.1:c.4142C>T | XP_016873688.1:p.Pro1381Leu | |
| XM_017018201.2:c.4145C>T | XP_016873690.1:p.Pro1382Leu | |
| XM_017018202.1:c.2642C>T | XP_016873691.1:p.Pro881Leu | |
| XM_017018204.1:c.2033C>T | XP_016873693.1:p.Pro678Leu | |
| XM_024448668.1:c.2444C>T | XP_024304436.1:p.Pro815Leu | |
| XR_001747945.2:n.4217C>T | ||
| XR_001747946.2:n.4148C>T | ||
| XR_002957189.1:n.4813C>T | ||
| NM_000352.6:c.4076C>T MANE Select | NP_000343.2:p.Pro1359Leu | |
| NM_001287174.2:c.4079C>T | NP_001274103.1:p.Pro1360Leu | |
| NM_001351295.2:c.4142C>T | NP_001338224.1:p.Pro1381Leu | |
| NM_001351296.2:c.4076C>T | NP_001338225.1:p.Pro1359Leu | |
| NM_001351297.2:c.4073C>T | NP_001338226.1:p.Pro1358Leu | |
| NR_147094.2:n.4371C>T | ||
| NM_001287174.3:c.4079C>T | NP_001274103.1:p.Pro1360Leu |