Linked Data
dbSNP Id:
rs1252199069
gnomAD v2:
11-17428398-C-T
gnomAD v3:
11-17406851-C-T
gnomAD v4:
11-17406851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406851C>T , CM000673.2:g.17406851C>T | GRCh38 |
| NC_000011.9:g.17428398C>T , CM000673.1:g.17428398C>T | GRCh37 |
| NC_000011.8:g.17384974C>T | NCBI36 |
| NG_008867.1:g.75052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2731+37G>A | ||
| ENST00000529967.6:n.1501+37G>A | ||
| ENST00000532220.2:n.894+37G>A | ||
| ENST00000642611.2:n.3231+37G>A | ||
| ENST00000645004.2:n.661+37G>A | ||
| ENST00000682051.1:n.3178+37G>A | ||
| ENST00000682110.1:n.3231+37G>A | ||
| ENST00000682140.1:c.3159+37G>A | ENSP00000507829.1:n.3159+37G>A | |
| ENST00000682185.1:n.4467+37G>A | ||
| ENST00000682204.1:c.*1300+37G>A | ENSP00000507094.1:n.*1300+37G>A | |
| ENST00000682215.1:n.3228+37G>A | ||
| ENST00000682288.1:c.*1593+37G>A | ENSP00000507506.1:n.*1593+37G>A | |
| ENST00000682442.1:n.3389G>A | ||
| ENST00000682528.1:n.3308+37G>A | ||
| ENST00000682673.1:n.3175+37G>A | ||
| ENST00000682805.1:n.3228+37G>A | ||
| ENST00000682965.1:c.3159+37G>A | ENSP00000508229.1:n.3159+37G>A | |
| ENST00000683093.1:n.3330+37G>A | ||
| ENST00000683136.1:c.3159+37G>A | ENSP00000507768.1:n.3159+37G>A | |
| ENST00000683153.1:n.3387+37G>A | ||
| ENST00000683365.1:n.3333+37G>A | ||
| ENST00000683377.1:n.3231+37G>A | ||
| ENST00000683456.1:c.*299+37G>A | ENSP00000508318.1:n.*299+37G>A | |
| ENST00000683522.1:n.3231+37G>A | ||
| ENST00000683562.1:c.*1331+37G>A | ENSP00000508265.1:n.*1331+37G>A | |
| ENST00000683693.1:n.3308+37G>A | ||
| ENST00000683725.1:c.3162+37G>A | ENSP00000507496.1:n.3162+37G>A | |
| ENST00000684010.1:n.3226+37G>A | ||
| ENST00000684157.1:n.3231+37G>A | ||
| ENST00000684253.1:n.3134+37G>A | ||
| ENST00000684288.1:c.*1334+37G>A | ENSP00000507143.1:n.*1334+37G>A | |
| ENST00000684313.1:n.2663+37G>A | ||
| ENST00000684332.1:n.3304+37G>A | ||
| ENST00000684371.1:n.3337+37G>A | ||
| ENST00000684404.1:n.3274+37G>A | ||
| ENST00000684442.1:n.3231+37G>A | ||
| ENST00000684555.1:c.*1374+37G>A | ENSP00000507705.1:n.*1374+37G>A | |
| ENST00000684571.1:c.3003+37G>A | ENSP00000506935.1:n.3003+37G>A | |
| ENST00000684593.1:c.*2867+37G>A | ENSP00000507005.1:n.*2867+37G>A | |
| ENST00000684711.1:c.*1558+37G>A | ENSP00000506841.1:n.*1558+37G>A | |
| ENST00000302539.9:c.3165+37G>A | ENSP00000303960.4:n.3165+37G>A | |
| ENST00000389817.8:c.3162+37G>A MANE Select | ENSP00000374467.4:n.3162+37G>A | |
| ENST00000642271.1:c.3159+37G>A | ENSP00000493749.1:n.3159+37G>A | |
| ENST00000642579.1:c.1246+37G>A | ||
| ENST00000642611.1:n.3116+37G>A | ||
| ENST00000642902.1:c.2944+37G>A | ||
| ENST00000643260.1:c.3162+37G>A | ENSP00000494450.1:n.3162+37G>A | |
| ENST00000643562.1:c.*1138+37G>A | ENSP00000496124.1:n.*1138+37G>A | |
| ENST00000643925.1:c.1286+37G>A | ||
| ENST00000644447.1:c.1518+37G>A | ENSP00000496282.1:n.1518+37G>A | |
| ENST00000644484.1:c.*1417+37G>A | ENSP00000493558.1:n.*1417+37G>A | |
| ENST00000644542.1:c.*2904G>A | ENSP00000495532.1:n.*2904G>A | |
| ENST00000644675.1:c.*1334+37G>A | ENSP00000494567.1:n.*1334+37G>A | |
| ENST00000644757.1:c.*1447+37G>A | ENSP00000495085.1:n.*1447+37G>A | |
| ENST00000644772.1:c.3228+37G>A | ENSP00000494321.1:n.3228+37G>A | |
| ENST00000645004.1:n.301+37G>A | ||
| ENST00000645076.1:c.2361+37G>A | ||
| ENST00000645417.1:c.328+37G>A | ||
| ENST00000645744.1:c.*1426+37G>A | ENSP00000494564.1:n.*1426+37G>A | |
| ENST00000645760.1:c.3437+37G>A | ||
| ENST00000645884.1:c.*299+37G>A | ENSP00000495516.1:n.*299+37G>A | |
| ENST00000646003.1:c.*1118+37G>A | ENSP00000495259.1:n.*1118+37G>A | |
| ENST00000646207.1:c.*1629+37G>A | ENSP00000495025.1:n.*1629+37G>A | |
| ENST00000646276.1:c.*1435+37G>A | ENSP00000496070.1:n.*1435+37G>A | |
| ENST00000646592.1:c.2468+37G>A | ||
| ENST00000646902.1:c.3159+37G>A | ENSP00000494101.1:n.3159+37G>A | |
| ENST00000646993.1:c.*1558+37G>A | ENSP00000493720.1:n.*1558+37G>A | |
| ENST00000647013.1:c.3168+37G>A | ENSP00000496741.1:n.3168+37G>A | |
| ENST00000647015.1:c.2913+37G>A | ENSP00000495389.1:n.2913+37G>A | |
| ENST00000647086.1:c.*2892+37G>A | ENSP00000493677.1:n.*2892+37G>A | |
| ENST00000647158.1:c.*1303+37G>A | ENSP00000495744.1:n.*1303+37G>A | |
| ENST00000302539.8:c.3165+37G>A | ENSP00000303960.4:n.3165+37G>A | |
| ENST00000389817.7:c.3162+37G>A | ENSP00000374467.3:n.3162+37G>A | |
| ENST00000524561.1:n.294+37G>A | ||
| ENST00000526921.5:n.846+37G>A | ||
| ENST00000527905.5:c.*38+37G>A | ENSP00000431653.1:n.*38+37G>A | |
| NM_000352.4:c.3162+37G>A | NP_000343.2:n.3162+37G>A | |
| NM_001287174.1:c.3165+37G>A | NP_001274103.1:n.3165+37G>A | |
| XM_011520331.1:c.3162+37G>A | XP_011518633.1:n.3162+37G>A | |
| XM_011520332.1:c.3165+37G>A | XP_011518634.1:n.3165+37G>A | |
| XM_011520333.1:c.1662+37G>A | XP_011518635.1:n.1662+37G>A | |
| XR_930890.1:n.3228+37G>A | ||
| XR_930891.1:n.3228+37G>A | ||
| XR_930892.1:n.3128+37G>A | ||
| XR_930893.1:n.3125+37G>A | ||
| NM_001351295.1:c.3228+37G>A | NP_001338224.1:n.3228+37G>A | |
| NM_001351296.1:c.3162+37G>A | NP_001338225.1:n.3162+37G>A | |
| NM_001351297.1:c.3159+37G>A | NP_001338226.1:n.3159+37G>A | |
| NR_147094.1:n.3311+37G>A | ||
| XM_017018197.2:c.3231+37G>A | XP_016873686.1:n.3231+37G>A | |
| XM_017018199.1:c.3228+37G>A | XP_016873688.1:n.3228+37G>A | |
| XM_017018201.2:c.3231+37G>A | XP_016873690.1:n.3231+37G>A | |
| XM_017018202.1:c.1728+37G>A | XP_016873691.1:n.1728+37G>A | |
| XM_017018204.1:c.1119+37G>A | XP_016873693.1:n.1119+37G>A | |
| XM_024448668.1:c.1530+37G>A | XP_024304436.1:n.1530+37G>A | |
| XR_001747945.2:n.3303+37G>A | ||
| XR_001747946.2:n.3234+37G>A | ||
| XR_002957189.1:n.3383+37G>A | ||
| NM_000352.6:c.3162+37G>A MANE Select | NP_000343.2:n.3162+37G>A | |
| NM_001287174.2:c.3165+37G>A | NP_001274103.1:n.3165+37G>A | |
| NM_001351295.2:c.3228+37G>A | NP_001338224.1:n.3228+37G>A | |
| NM_001351296.2:c.3162+37G>A | NP_001338225.1:n.3162+37G>A | |
| NM_001351297.2:c.3159+37G>A | NP_001338226.1:n.3159+37G>A | |
| NR_147094.2:n.3311+37G>A | ||
| NM_001287174.3:c.3165+37G>A | NP_001274103.1:n.3165+37G>A |