Linked Data
ClinVar Variation Id:
1148077
dbSNP Id:
rs754554936
ExAC:
11:17432123 G / A
gnomAD v2:
11-17432123-G-A
gnomAD v3:
11-17410576-G-A
gnomAD v4:
11-17410576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17410576G>A , CM000673.2:g.17410576G>A | GRCh38 |
| NC_000011.9:g.17432123G>A , CM000673.1:g.17432123G>A | GRCh37 |
| NC_000011.8:g.17388699G>A | NCBI36 |
| NG_008867.1:g.71327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2303C>T | ||
| ENST00000529967.6:n.893C>T | ||
| ENST00000642611.2:n.2703C>T | ||
| ENST00000682051.1:n.2650C>T | ||
| ENST00000682110.1:n.2703C>T | ||
| ENST00000682140.1:c.2631C>T | ENSP00000507829.1:p.Asp877= | |
| ENST00000682185.1:n.3939C>T | ||
| ENST00000682204.1:c.*772C>T | ENSP00000507094.1:n.*772C>T | |
| ENST00000682215.1:n.2700C>T | ||
| ENST00000682288.1:c.*1065C>T | ENSP00000507506.1:n.*1065C>T | |
| ENST00000682442.1:n.2824C>T | ||
| ENST00000682528.1:n.2700C>T | ||
| ENST00000682673.1:n.2647C>T | ||
| ENST00000682805.1:n.2700C>T | ||
| ENST00000682965.1:c.2631C>T | ENSP00000508229.1:p.Asp877= | |
| ENST00000683093.1:n.2802C>T | ||
| ENST00000683136.1:c.2631C>T | ENSP00000507768.1:p.Asp877= | |
| ENST00000683153.1:n.2859C>T | ||
| ENST00000683365.1:n.2805C>T | ||
| ENST00000683377.1:n.2703C>T | ||
| ENST00000683456.1:c.2634C>T | ENSP00000508318.1:p.Asp878= | |
| ENST00000683522.1:n.2703C>T | ||
| ENST00000683562.1:c.*803C>T | ENSP00000508265.1:n.*803C>T | |
| ENST00000683693.1:n.2700C>T | ||
| ENST00000683725.1:c.2634C>T | ENSP00000507496.1:p.Asp878= | |
| ENST00000684010.1:n.2618C>T | ||
| ENST00000684157.1:n.2703C>T | ||
| ENST00000684253.1:n.2606C>T | ||
| ENST00000684288.1:c.*806C>T | ENSP00000507143.1:n.*806C>T | |
| ENST00000684313.1:n.2135C>T | ||
| ENST00000684332.1:n.2776C>T | ||
| ENST00000684371.1:n.2809C>T | ||
| ENST00000684404.1:n.2700C>T | ||
| ENST00000684442.1:n.2703C>T | ||
| ENST00000684555.1:c.*846C>T | ENSP00000507705.1:n.*846C>T | |
| ENST00000684571.1:c.2475C>T | ENSP00000506935.1:p.Asp825= | |
| ENST00000684593.1:c.*2339C>T | ENSP00000507005.1:n.*2339C>T | |
| ENST00000684711.1:c.*1030C>T | ENSP00000506841.1:n.*1030C>T | |
| ENST00000302539.9:c.2637C>T | ENSP00000303960.4:p.Asp879= | |
| ENST00000389817.8:c.2634C>T MANE Select | ENSP00000374467.4:p.Asp878= | |
| ENST00000642271.1:c.2631C>T | ENSP00000493749.1:p.Asp877= | |
| ENST00000642579.1:c.718C>T | ||
| ENST00000642611.1:n.2588C>T | ||
| ENST00000642902.1:c.2469C>T | ||
| ENST00000643260.1:c.2634C>T | ENSP00000494450.1:p.Asp878= | |
| ENST00000643562.1:c.*610C>T | ENSP00000496124.1:n.*610C>T | |
| ENST00000643925.1:c.678C>T | ||
| ENST00000644447.1:c.990C>T | ENSP00000496282.1:p.Asp330= | |
| ENST00000644472.1:c.*995C>T | ENSP00000495378.1:n.*995C>T | |
| ENST00000644484.1:c.*843C>T | ENSP00000493558.1:n.*843C>T | |
| ENST00000644542.1:c.*2339C>T | ENSP00000495532.1:n.*2339C>T | |
| ENST00000644675.1:c.*806C>T | ENSP00000494567.1:n.*806C>T | |
| ENST00000644757.1:c.*939C>T | ENSP00000495085.1:n.*939C>T | |
| ENST00000644772.1:c.2700C>T | ENSP00000494321.1:p.Asp900= | |
| ENST00000645076.1:c.1886C>T | ||
| ENST00000645744.1:c.*998C>T | ENSP00000494564.1:n.*998C>T | |
| ENST00000645760.1:c.2909C>T | ||
| ENST00000645884.1:c.2634C>T | ENSP00000495516.1:p.Asp878= | |
| ENST00000646003.1:c.*690C>T | ENSP00000495259.1:n.*690C>T | |
| ENST00000646207.1:c.*998C>T | ENSP00000495025.1:n.*998C>T | |
| ENST00000646276.1:c.*907C>T | ENSP00000496070.1:n.*907C>T | |
| ENST00000646592.1:c.1860C>T | ||
| ENST00000646902.1:c.2631C>T | ENSP00000494101.1:p.Asp877= | |
| ENST00000646993.1:c.*1030C>T | ENSP00000493720.1:n.*1030C>T | |
| ENST00000647013.1:c.2640C>T | ENSP00000496741.1:n.2640C>T | |
| ENST00000647015.1:c.2385C>T | ENSP00000495389.1:p.Asp795= | |
| ENST00000647086.1:c.*2364C>T | ENSP00000493677.1:n.*2364C>T | |
| ENST00000647158.1:c.*775C>T | ENSP00000495744.1:n.*775C>T | |
| ENST00000302539.8:c.2637C>T | ENSP00000303960.4:p.Asp879= | |
| ENST00000389817.7:c.2634C>T | ENSP00000374467.3:p.Asp878= | |
| ENST00000526921.5:n.318C>T | ||
| ENST00000527905.5:c.2604C>T | ENSP00000431653.1:p.Asp868= | |
| ENST00000529967.5:n.303C>T | ||
| ENST00000530147.5:n.217C>T | ||
| NM_000352.4:c.2634C>T | NP_000343.2:p.Asp878= | |
| NM_001287174.1:c.2637C>T | NP_001274103.1:p.Asp879= | |
| XM_011520331.1:c.2634C>T | XP_011518633.1:p.Asp878= | |
| XM_011520332.1:c.2637C>T | XP_011518634.1:p.Asp879= | |
| XM_011520333.1:c.1134C>T | XP_011518635.1:p.Asp378= | |
| XM_011520334.1:c.2637C>T | XP_011518636.1:p.Asp879= | |
| XR_930890.1:n.2700C>T | ||
| XR_930891.1:n.2700C>T | ||
| XR_930892.1:n.2700C>T | ||
| XR_930893.1:n.2697C>T | ||
| NM_001351295.1:c.2700C>T | NP_001338224.1:p.Asp900= | |
| NM_001351296.1:c.2634C>T | NP_001338225.1:p.Asp878= | |
| NM_001351297.1:c.2631C>T | NP_001338226.1:p.Asp877= | |
| NR_147094.1:n.2703C>T | ||
| XM_017018197.2:c.2703C>T | XP_016873686.1:p.Asp901= | |
| XM_017018199.1:c.2700C>T | XP_016873688.1:p.Asp900= | |
| XM_017018201.2:c.2703C>T | XP_016873690.1:p.Asp901= | |
| XM_017018202.1:c.1200C>T | XP_016873691.1:p.Asp400= | |
| XM_017018204.1:c.591C>T | XP_016873693.1:p.Asp197= | |
| XM_024448668.1:c.1002C>T | XP_024304436.1:p.Asp334= | |
| XR_001747945.2:n.2775C>T | ||
| XR_001747946.2:n.2706C>T | ||
| XR_002957189.1:n.2775C>T | ||
| NM_000352.6:c.2634C>T MANE Select | NP_000343.2:p.Asp878= | |
| NM_001287174.2:c.2637C>T | NP_001274103.1:p.Asp879= | |
| NM_001351295.2:c.2700C>T | NP_001338224.1:p.Asp900= | |
| NM_001351296.2:c.2634C>T | NP_001338225.1:p.Asp878= | |
| NM_001351297.2:c.2631C>T | NP_001338226.1:p.Asp877= | |
| NR_147094.2:n.2703C>T | ||
| NM_001287174.3:c.2637C>T | NP_001274103.1:p.Asp879= |