Linked Data
dbSNP Id:
rs747355114
ExAC:
11:17429974 T / A
gnomAD v2:
11-17429974-T-A
gnomAD v4:
11-17408427-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17408427T>A , CM000673.2:g.17408427T>A | GRCh38 |
| NC_000011.9:g.17429974T>A , CM000673.1:g.17429974T>A | GRCh37 |
| NC_000011.8:g.17386550T>A | NCBI36 |
| NG_008867.1:g.73476A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2454A>T | ||
| ENST00000529967.6:n.1044A>T | ||
| ENST00000532220.2:n.517A>T | ||
| ENST00000642611.2:n.2854A>T | ||
| ENST00000682051.1:n.2801A>T | ||
| ENST00000682110.1:n.2854A>T | ||
| ENST00000682140.1:c.2782A>T | ENSP00000507829.1:p.Thr928Ser | |
| ENST00000682185.1:n.4090A>T | ||
| ENST00000682204.1:c.*923A>T | ENSP00000507094.1:n.*923A>T | |
| ENST00000682215.1:n.2851A>T | ||
| ENST00000682288.1:c.*1216A>T | ENSP00000507506.1:n.*1216A>T | |
| ENST00000682442.1:n.2975A>T | ||
| ENST00000682528.1:n.2851A>T | ||
| ENST00000682673.1:n.2798A>T | ||
| ENST00000682805.1:n.2851A>T | ||
| ENST00000682965.1:c.2782A>T | ENSP00000508229.1:p.Thr928Ser | |
| ENST00000683093.1:n.2953A>T | ||
| ENST00000683136.1:c.2782A>T | ENSP00000507768.1:p.Thr928Ser | |
| ENST00000683153.1:n.3010A>T | ||
| ENST00000683365.1:n.2956A>T | ||
| ENST00000683377.1:n.2854A>T | ||
| ENST00000683456.1:c.2785A>T | ENSP00000508318.1:p.Thr929Ser | |
| ENST00000683522.1:n.2854A>T | ||
| ENST00000683562.1:c.*954A>T | ENSP00000508265.1:n.*954A>T | |
| ENST00000683693.1:n.2851A>T | ||
| ENST00000683725.1:c.2785A>T | ENSP00000507496.1:p.Thr929Ser | |
| ENST00000684010.1:n.2769A>T | ||
| ENST00000684157.1:n.2854A>T | ||
| ENST00000684253.1:n.2757A>T | ||
| ENST00000684288.1:c.*957A>T | ENSP00000507143.1:n.*957A>T | |
| ENST00000684313.1:n.2286A>T | ||
| ENST00000684332.1:n.2927A>T | ||
| ENST00000684371.1:n.2960A>T | ||
| ENST00000684404.1:n.2851A>T | ||
| ENST00000684442.1:n.2854A>T | ||
| ENST00000684555.1:c.*997A>T | ENSP00000507705.1:n.*997A>T | |
| ENST00000684571.1:c.2626A>T | ENSP00000506935.1:p.Thr876Ser | |
| ENST00000684593.1:c.*2490A>T | ENSP00000507005.1:n.*2490A>T | |
| ENST00000684711.1:c.*1181A>T | ENSP00000506841.1:n.*1181A>T | |
| ENST00000302539.9:c.2788A>T | ENSP00000303960.4:p.Thr930Ser | |
| ENST00000389817.8:c.2785A>T MANE Select | ENSP00000374467.4:p.Thr929Ser | |
| ENST00000642271.1:c.2782A>T | ENSP00000493749.1:p.Thr928Ser | |
| ENST00000642579.1:c.869A>T | ||
| ENST00000642611.1:n.2739A>T | ||
| ENST00000642902.1:c.2620A>T | ||
| ENST00000643260.1:c.2785A>T | ENSP00000494450.1:p.Thr929Ser | |
| ENST00000643562.1:c.*761A>T | ENSP00000496124.1:n.*761A>T | |
| ENST00000643925.1:c.829A>T | ||
| ENST00000644447.1:c.1141A>T | ENSP00000496282.1:p.Thr381Ser | |
| ENST00000644484.1:c.*994A>T | ENSP00000493558.1:n.*994A>T | |
| ENST00000644542.1:c.*2490A>T | ENSP00000495532.1:n.*2490A>T | |
| ENST00000644675.1:c.*957A>T | ENSP00000494567.1:n.*957A>T | |
| ENST00000644757.1:c.*1090A>T | ENSP00000495085.1:n.*1090A>T | |
| ENST00000644772.1:c.2851A>T | ENSP00000494321.1:p.Thr951Ser | |
| ENST00000645076.1:c.2037A>T | ||
| ENST00000645744.1:c.*1149A>T | ENSP00000494564.1:n.*1149A>T | |
| ENST00000645760.1:c.3060A>T | ||
| ENST00000645884.1:c.2785A>T | ENSP00000495516.1:p.Thr929Ser | |
| ENST00000646003.1:c.*841A>T | ENSP00000495259.1:n.*841A>T | |
| ENST00000646207.1:c.*1149A>T | ENSP00000495025.1:n.*1149A>T | |
| ENST00000646276.1:c.*1058A>T | ENSP00000496070.1:n.*1058A>T | |
| ENST00000646592.1:c.2011A>T | ||
| ENST00000646902.1:c.2782A>T | ENSP00000494101.1:p.Thr928Ser | |
| ENST00000646993.1:c.*1181A>T | ENSP00000493720.1:n.*1181A>T | |
| ENST00000647013.1:c.2791A>T | ENSP00000496741.1:n.2791A>T | |
| ENST00000647015.1:c.2536A>T | ENSP00000495389.1:p.Thr846Ser | |
| ENST00000647086.1:c.*2515A>T | ENSP00000493677.1:n.*2515A>T | |
| ENST00000647158.1:c.*926A>T | ENSP00000495744.1:n.*926A>T | |
| ENST00000302539.8:c.2788A>T | ENSP00000303960.4:p.Thr930Ser | |
| ENST00000389817.7:c.2785A>T | ENSP00000374467.3:p.Thr929Ser | |
| ENST00000526921.5:n.469A>T | ||
| ENST00000527905.5:c.2755A>T | ENSP00000431653.1:p.Thr919Ser | |
| ENST00000529967.5:n.454A>T | ||
| NM_000352.4:c.2785A>T | NP_000343.2:p.Thr929Ser | |
| NM_001287174.1:c.2788A>T | NP_001274103.1:p.Thr930Ser | |
| XM_011520331.1:c.2785A>T | XP_011518633.1:p.Thr929Ser | |
| XM_011520332.1:c.2788A>T | XP_011518634.1:p.Thr930Ser | |
| XM_011520333.1:c.1285A>T | XP_011518635.1:p.Thr429Ser | |
| XM_011520334.1:c.2788A>T | XP_011518636.1:p.Thr930Ser | |
| XR_930890.1:n.2851A>T | ||
| XR_930891.1:n.2851A>T | ||
| XR_930892.1:n.2851A>T | ||
| XR_930893.1:n.2848A>T | ||
| NM_001351295.1:c.2851A>T | NP_001338224.1:p.Thr951Ser | |
| NM_001351296.1:c.2785A>T | NP_001338225.1:p.Thr929Ser | |
| NM_001351297.1:c.2782A>T | NP_001338226.1:p.Thr928Ser | |
| NR_147094.1:n.2854A>T | ||
| XM_017018197.2:c.2854A>T | XP_016873686.1:p.Thr952Ser | |
| XM_017018199.1:c.2851A>T | XP_016873688.1:p.Thr951Ser | |
| XM_017018201.2:c.2854A>T | XP_016873690.1:p.Thr952Ser | |
| XM_017018202.1:c.1351A>T | XP_016873691.1:p.Thr451Ser | |
| XM_017018204.1:c.742A>T | XP_016873693.1:p.Thr248Ser | |
| XM_024448668.1:c.1153A>T | XP_024304436.1:p.Thr385Ser | |
| XR_001747945.2:n.2926A>T | ||
| XR_001747946.2:n.2857A>T | ||
| XR_002957189.1:n.2926A>T | ||
| NM_000352.6:c.2785A>T MANE Select | NP_000343.2:p.Thr929Ser | |
| NM_001287174.2:c.2788A>T | NP_001274103.1:p.Thr930Ser | |
| NM_001351295.2:c.2851A>T | NP_001338224.1:p.Thr951Ser | |
| NM_001351296.2:c.2785A>T | NP_001338225.1:p.Thr929Ser | |
| NM_001351297.2:c.2782A>T | NP_001338226.1:p.Thr928Ser | |
| NR_147094.2:n.2854A>T | ||
| NM_001287174.3:c.2788A>T | NP_001274103.1:p.Thr930Ser |