Linked Data
dbSNP Id:
rs1170587370
gnomAD v2:
11-17418591-G-A
gnomAD v3:
11-17397044-G-A
gnomAD v4:
11-17397044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397044G>A , CM000673.2:g.17397044G>A | GRCh38 |
| NC_000011.9:g.17418591G>A , CM000673.1:g.17418591G>A | GRCh37 |
| NC_000011.8:g.17375167G>A | NCBI36 |
| NG_008867.1:g.84859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3592C>T | ||
| ENST00000528374.2:c.582C>T | ||
| ENST00000529967.6:n.2330C>T | ||
| ENST00000532220.2:n.2239C>T | ||
| ENST00000642611.2:n.4206C>T | ||
| ENST00000644057.2:n.434C>T | ||
| ENST00000645004.2:n.1490C>T | ||
| ENST00000682051.1:n.4153C>T | ||
| ENST00000682110.1:n.4206C>T | ||
| ENST00000682140.1:c.3985+149C>T | ENSP00000507829.1:n.3985+149C>T | |
| ENST00000682185.1:n.5296C>T | ||
| ENST00000682204.1:c.*2129C>T | ENSP00000507094.1:n.*2129C>T | |
| ENST00000682215.1:n.4573C>T | ||
| ENST00000682288.1:c.*2422C>T | ENSP00000507506.1:n.*2422C>T | |
| ENST00000682442.1:n.4426C>T | ||
| ENST00000682528.1:n.4283C>T | ||
| ENST00000682673.1:n.4150C>T | ||
| ENST00000682805.1:n.4573C>T | ||
| ENST00000682965.1:c.*413C>T | ENSP00000508229.1:n.*413C>T | |
| ENST00000683093.1:n.4305C>T | ||
| ENST00000683136.1:c.3874C>T | ENSP00000507768.1:p.Pro1292Ser | |
| ENST00000683153.1:n.4248C>T | ||
| ENST00000683365.1:n.4308C>T | ||
| ENST00000683377.1:n.4206C>T | ||
| ENST00000683456.1:c.*1128C>T | ENSP00000508318.1:n.*1128C>T | |
| ENST00000683522.1:n.4206C>T | ||
| ENST00000683562.1:c.*2160C>T | ENSP00000508265.1:n.*2160C>T | |
| ENST00000683693.1:n.4653C>T | ||
| ENST00000683725.1:c.3991C>T | ENSP00000507496.1:p.Pro1331Ser | |
| ENST00000684010.1:n.4201C>T | ||
| ENST00000684157.1:n.4206C>T | ||
| ENST00000684253.1:n.4109C>T | ||
| ENST00000684288.1:c.*2163C>T | ENSP00000507143.1:n.*2163C>T | |
| ENST00000684313.1:n.3638C>T | ||
| ENST00000684332.1:n.4279C>T | ||
| ENST00000684371.1:n.4312C>T | ||
| ENST00000684404.1:n.4249C>T | ||
| ENST00000684442.1:n.4430C>T | ||
| ENST00000684555.1:c.*2203C>T | ENSP00000507705.1:n.*2203C>T | |
| ENST00000684571.1:c.3832C>T | ENSP00000506935.1:p.Pro1278Ser | |
| ENST00000684593.1:c.*3696C>T | ENSP00000507005.1:n.*3696C>T | |
| ENST00000684711.1:c.*2387C>T | ENSP00000506841.1:n.*2387C>T | |
| ENST00000302539.9:c.3994C>T | ENSP00000303960.4:p.Pro1332Ser | |
| ENST00000389817.8:c.3991C>T MANE Select | ENSP00000374467.4:p.Pro1331Ser | |
| ENST00000642271.1:c.3988C>T | ENSP00000493749.1:p.Pro1330Ser | |
| ENST00000642579.1:c.2073-28C>T | ||
| ENST00000642611.1:n.4091C>T | ||
| ENST00000642902.1:c.3773C>T | ||
| ENST00000643260.1:c.3991C>T | ENSP00000494450.1:p.Pro1331Ser | |
| ENST00000643562.1:c.*2113C>T | ENSP00000496124.1:n.*2113C>T | |
| ENST00000643925.1:c.2631C>T | ||
| ENST00000644057.1:n.68C>T | ||
| ENST00000644484.1:c.*2392C>T | ENSP00000493558.1:n.*2392C>T | |
| ENST00000644675.1:c.*2163C>T | ENSP00000494567.1:n.*2163C>T | |
| ENST00000644757.1:c.*2422C>T | ENSP00000495085.1:n.*2422C>T | |
| ENST00000644772.1:c.4057C>T | ENSP00000494321.1:p.Pro1353Ser | |
| ENST00000645004.1:n.1646C>T | ||
| ENST00000645076.1:c.3190C>T | ||
| ENST00000645417.1:c.1179C>T | ||
| ENST00000645744.1:c.*2771C>T | ENSP00000494564.1:n.*2771C>T | |
| ENST00000645760.1:c.4412C>T | ||
| ENST00000645884.1:c.*1274C>T | ENSP00000495516.1:n.*1274C>T | |
| ENST00000646003.1:c.*2093C>T | ENSP00000495259.1:n.*2093C>T | |
| ENST00000646207.1:c.*2828C>T | ENSP00000495025.1:n.*2828C>T | |
| ENST00000646276.1:c.*2410C>T | ENSP00000496070.1:n.*2410C>T | |
| ENST00000646592.1:c.3297C>T | ||
| ENST00000646902.1:c.3986-28C>T | ENSP00000494101.1:n.3986-28C>T | |
| ENST00000646993.1:c.*2533C>T | ENSP00000493720.1:n.*2533C>T | |
| ENST00000647013.1:c.3997C>T | ENSP00000496741.1:n.3997C>T | |
| ENST00000647015.1:c.3742C>T | ENSP00000495389.1:p.Pro1248Ser | |
| ENST00000647086.1:c.*3605-28C>T | ENSP00000493677.1:n.*3605-28C>T | |
| ENST00000647158.1:c.*2278C>T | ENSP00000495744.1:n.*2278C>T | |
| ENST00000302539.8:c.3994C>T | ENSP00000303960.4:p.Pro1332Ser | |
| ENST00000389817.7:c.3991C>T | ENSP00000374467.3:p.Pro1331Ser | |
| ENST00000527905.5:c.*1013C>T | ENSP00000431653.1:n.*1013C>T | |
| ENST00000528374.1:c.473C>T | ||
| ENST00000531137.1:n.556C>T | ||
| ENST00000531891.1:c.357-28C>T | ||
| ENST00000532220.1:n.465C>T | ||
| NM_000352.4:c.3991C>T | NP_000343.2:p.Pro1331Ser | |
| NM_001287174.1:c.3994C>T | NP_001274103.1:p.Pro1332Ser | |
| XM_011520331.1:c.3991C>T | XP_011518633.1:p.Pro1331Ser | |
| XM_011520332.1:c.3994C>T | XP_011518634.1:p.Pro1332Ser | |
| XM_011520333.1:c.2491C>T | XP_011518635.1:p.Pro831Ser | |
| XR_930890.1:n.4057C>T | ||
| NM_001351295.1:c.4057C>T | NP_001338224.1:p.Pro1353Ser | |
| NM_001351296.1:c.3991C>T | NP_001338225.1:p.Pro1331Ser | |
| NM_001351297.1:c.3988C>T | NP_001338226.1:p.Pro1330Ser | |
| NR_147094.1:n.4286C>T | ||
| XM_017018197.2:c.4060C>T | XP_016873686.1:p.Pro1354Ser | |
| XM_017018199.1:c.4057C>T | XP_016873688.1:p.Pro1353Ser | |
| XM_017018201.2:c.4060C>T | XP_016873690.1:p.Pro1354Ser | |
| XM_017018202.1:c.2557C>T | XP_016873691.1:p.Pro853Ser | |
| XM_017018204.1:c.1948C>T | XP_016873693.1:p.Pro650Ser | |
| XM_024448668.1:c.2359C>T | XP_024304436.1:p.Pro787Ser | |
| XR_001747945.2:n.4132C>T | ||
| XR_001747946.2:n.4063C>T | ||
| XR_002957189.1:n.4728C>T | ||
| NM_000352.6:c.3991C>T MANE Select | NP_000343.2:p.Pro1331Ser | |
| NM_001287174.2:c.3994C>T | NP_001274103.1:p.Pro1332Ser | |
| NM_001351295.2:c.4057C>T | NP_001338224.1:p.Pro1353Ser | |
| NM_001351296.2:c.3991C>T | NP_001338225.1:p.Pro1331Ser | |
| NM_001351297.2:c.3988C>T | NP_001338226.1:p.Pro1330Ser | |
| NR_147094.2:n.4286C>T | ||
| NM_001287174.3:c.3994C>T | NP_001274103.1:p.Pro1332Ser |