Linked Data
dbSNP Id:
rs779120778
ExAC:
11:17418581 A / G
gnomAD v2:
11-17418581-A-G
gnomAD v4:
11-17397034-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397034A>G , CM000673.2:g.17397034A>G | GRCh38 |
| NC_000011.9:g.17418581A>G , CM000673.1:g.17418581A>G | GRCh37 |
| NC_000011.8:g.17375157A>G | NCBI36 |
| NG_008867.1:g.84869T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3602T>C | ||
| ENST00000528374.2:c.592T>C | ||
| ENST00000529967.6:n.2340T>C | ||
| ENST00000532220.2:n.2249T>C | ||
| ENST00000642611.2:n.4216T>C | ||
| ENST00000644057.2:n.444T>C | ||
| ENST00000645004.2:n.1500T>C | ||
| ENST00000682051.1:n.4163T>C | ||
| ENST00000682110.1:n.4216T>C | ||
| ENST00000682140.1:c.3985+159T>C | ENSP00000507829.1:n.3985+159T>C | |
| ENST00000682185.1:n.5306T>C | ||
| ENST00000682204.1:c.*2139T>C | ENSP00000507094.1:n.*2139T>C | |
| ENST00000682215.1:n.4583T>C | ||
| ENST00000682288.1:c.*2432T>C | ENSP00000507506.1:n.*2432T>C | |
| ENST00000682442.1:n.4436T>C | ||
| ENST00000682528.1:n.4293T>C | ||
| ENST00000682673.1:n.4160T>C | ||
| ENST00000682805.1:n.4583T>C | ||
| ENST00000682965.1:c.*423T>C | ENSP00000508229.1:n.*423T>C | |
| ENST00000683093.1:n.4315T>C | ||
| ENST00000683136.1:c.3884T>C | ENSP00000507768.1:p.Ile1295Thr | |
| ENST00000683153.1:n.4258T>C | ||
| ENST00000683365.1:n.4318T>C | ||
| ENST00000683377.1:n.4216T>C | ||
| ENST00000683456.1:c.*1138T>C | ENSP00000508318.1:n.*1138T>C | |
| ENST00000683522.1:n.4216T>C | ||
| ENST00000683562.1:c.*2170T>C | ENSP00000508265.1:n.*2170T>C | |
| ENST00000683693.1:n.4663T>C | ||
| ENST00000683725.1:c.4001T>C | ENSP00000507496.1:p.Ile1334Thr | |
| ENST00000684010.1:n.4211T>C | ||
| ENST00000684157.1:n.4216T>C | ||
| ENST00000684253.1:n.4119T>C | ||
| ENST00000684288.1:c.*2173T>C | ENSP00000507143.1:n.*2173T>C | |
| ENST00000684313.1:n.3648T>C | ||
| ENST00000684332.1:n.4289T>C | ||
| ENST00000684371.1:n.4322T>C | ||
| ENST00000684404.1:n.4259T>C | ||
| ENST00000684442.1:n.4440T>C | ||
| ENST00000684555.1:c.*2213T>C | ENSP00000507705.1:n.*2213T>C | |
| ENST00000684571.1:c.3842T>C | ENSP00000506935.1:p.Ile1281Thr | |
| ENST00000684593.1:c.*3706T>C | ENSP00000507005.1:n.*3706T>C | |
| ENST00000684711.1:c.*2397T>C | ENSP00000506841.1:n.*2397T>C | |
| ENST00000302539.9:c.4004T>C | ENSP00000303960.4:p.Ile1335Thr | |
| ENST00000389817.8:c.4001T>C MANE Select | ENSP00000374467.4:p.Ile1334Thr | |
| ENST00000642271.1:c.3998T>C | ENSP00000493749.1:p.Ile1333Thr | |
| ENST00000642579.1:c.2073-18T>C | ||
| ENST00000642611.1:n.4101T>C | ||
| ENST00000642902.1:c.3783T>C | ||
| ENST00000643260.1:c.4001T>C | ENSP00000494450.1:p.Ile1334Thr | |
| ENST00000643562.1:c.*2123T>C | ENSP00000496124.1:n.*2123T>C | |
| ENST00000643925.1:c.2641T>C | ||
| ENST00000644057.1:n.78T>C | ||
| ENST00000644484.1:c.*2402T>C | ENSP00000493558.1:n.*2402T>C | |
| ENST00000644675.1:c.*2173T>C | ENSP00000494567.1:n.*2173T>C | |
| ENST00000644757.1:c.*2432T>C | ENSP00000495085.1:n.*2432T>C | |
| ENST00000644772.1:c.4067T>C | ENSP00000494321.1:p.Ile1356Thr | |
| ENST00000645004.1:n.1656T>C | ||
| ENST00000645076.1:c.3200T>C | ||
| ENST00000645417.1:c.1189T>C | ||
| ENST00000645744.1:c.*2781T>C | ENSP00000494564.1:n.*2781T>C | |
| ENST00000645760.1:c.4422T>C | ||
| ENST00000645884.1:c.*1284T>C | ENSP00000495516.1:n.*1284T>C | |
| ENST00000646003.1:c.*2103T>C | ENSP00000495259.1:n.*2103T>C | |
| ENST00000646207.1:c.*2838T>C | ENSP00000495025.1:n.*2838T>C | |
| ENST00000646276.1:c.*2420T>C | ENSP00000496070.1:n.*2420T>C | |
| ENST00000646592.1:c.3307T>C | ||
| ENST00000646902.1:c.3986-18T>C | ENSP00000494101.1:n.3986-18T>C | |
| ENST00000646993.1:c.*2543T>C | ENSP00000493720.1:n.*2543T>C | |
| ENST00000647013.1:c.4007T>C | ENSP00000496741.1:n.4007T>C | |
| ENST00000647015.1:c.3752T>C | ENSP00000495389.1:p.Ile1251Thr | |
| ENST00000647086.1:c.*3605-18T>C | ENSP00000493677.1:n.*3605-18T>C | |
| ENST00000647158.1:c.*2288T>C | ENSP00000495744.1:n.*2288T>C | |
| ENST00000302539.8:c.4004T>C | ENSP00000303960.4:p.Ile1335Thr | |
| ENST00000389817.7:c.4001T>C | ENSP00000374467.3:p.Ile1334Thr | |
| ENST00000527905.5:c.*1023T>C | ENSP00000431653.1:n.*1023T>C | |
| ENST00000528374.1:c.483T>C | ||
| ENST00000531137.1:n.566T>C | ||
| ENST00000531891.1:c.357-18T>C | ||
| ENST00000532220.1:n.475T>C | ||
| NM_000352.4:c.4001T>C | NP_000343.2:p.Ile1334Thr | |
| NM_001287174.1:c.4004T>C | NP_001274103.1:p.Ile1335Thr | |
| XM_011520331.1:c.4001T>C | XP_011518633.1:p.Ile1334Thr | |
| XM_011520332.1:c.4004T>C | XP_011518634.1:p.Ile1335Thr | |
| XM_011520333.1:c.2501T>C | XP_011518635.1:p.Ile834Thr | |
| XR_930890.1:n.4067T>C | ||
| NM_001351295.1:c.4067T>C | NP_001338224.1:p.Ile1356Thr | |
| NM_001351296.1:c.4001T>C | NP_001338225.1:p.Ile1334Thr | |
| NM_001351297.1:c.3998T>C | NP_001338226.1:p.Ile1333Thr | |
| NR_147094.1:n.4296T>C | ||
| XM_017018197.2:c.4070T>C | XP_016873686.1:p.Ile1357Thr | |
| XM_017018199.1:c.4067T>C | XP_016873688.1:p.Ile1356Thr | |
| XM_017018201.2:c.4070T>C | XP_016873690.1:p.Ile1357Thr | |
| XM_017018202.1:c.2567T>C | XP_016873691.1:p.Ile856Thr | |
| XM_017018204.1:c.1958T>C | XP_016873693.1:p.Ile653Thr | |
| XM_024448668.1:c.2369T>C | XP_024304436.1:p.Ile790Thr | |
| XR_001747945.2:n.4142T>C | ||
| XR_001747946.2:n.4073T>C | ||
| XR_002957189.1:n.4738T>C | ||
| NM_000352.6:c.4001T>C MANE Select | NP_000343.2:p.Ile1334Thr | |
| NM_001287174.2:c.4004T>C | NP_001274103.1:p.Ile1335Thr | |
| NM_001351295.2:c.4067T>C | NP_001338224.1:p.Ile1356Thr | |
| NM_001351296.2:c.4001T>C | NP_001338225.1:p.Ile1334Thr | |
| NM_001351297.2:c.3998T>C | NP_001338226.1:p.Ile1333Thr | |
| NR_147094.2:n.4296T>C | ||
| NM_001287174.3:c.4004T>C | NP_001274103.1:p.Ile1335Thr |