Linked Data
dbSNP Id:
rs1434876771
gnomAD v2:
11-17418528-G-A
gnomAD v4:
11-17396981-G-A
COSMIC:
COSM925473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396981G>A , CM000673.2:g.17396981G>A | GRCh38 |
| NC_000011.9:g.17418528G>A , CM000673.1:g.17418528G>A | GRCh37 |
| NC_000011.8:g.17375104G>A | NCBI36 |
| NG_008867.1:g.84922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3655C>T | ||
| ENST00000528374.2:c.645C>T | ||
| ENST00000529967.6:n.2393C>T | ||
| ENST00000532220.2:n.2302C>T | ||
| ENST00000642611.2:n.4269C>T | ||
| ENST00000644057.2:n.497C>T | ||
| ENST00000645004.2:n.1553C>T | ||
| ENST00000682051.1:n.4216C>T | ||
| ENST00000682110.1:n.4269C>T | ||
| ENST00000682140.1:c.3985+212C>T | ENSP00000507829.1:n.3985+212C>T | |
| ENST00000682185.1:n.5359C>T | ||
| ENST00000682204.1:c.*2192C>T | ENSP00000507094.1:n.*2192C>T | |
| ENST00000682215.1:n.4636C>T | ||
| ENST00000682288.1:c.*2485C>T | ENSP00000507506.1:n.*2485C>T | |
| ENST00000682442.1:n.4489C>T | ||
| ENST00000682528.1:n.4346C>T | ||
| ENST00000682673.1:n.4213C>T | ||
| ENST00000682805.1:n.4636C>T | ||
| ENST00000682965.1:c.*476C>T | ENSP00000508229.1:n.*476C>T | |
| ENST00000683093.1:n.4368C>T | ||
| ENST00000683136.1:c.3937C>T | ENSP00000507768.1:p.Arg1313Cys | |
| ENST00000683153.1:n.4311C>T | ||
| ENST00000683365.1:n.4371C>T | ||
| ENST00000683377.1:n.4269C>T | ||
| ENST00000683456.1:c.*1191C>T | ENSP00000508318.1:n.*1191C>T | |
| ENST00000683522.1:n.4269C>T | ||
| ENST00000683562.1:c.*2223C>T | ENSP00000508265.1:n.*2223C>T | |
| ENST00000683693.1:n.4716C>T | ||
| ENST00000683725.1:c.4054C>T | ENSP00000507496.1:p.Arg1352Cys | |
| ENST00000684010.1:n.4264C>T | ||
| ENST00000684157.1:n.4269C>T | ||
| ENST00000684253.1:n.4172C>T | ||
| ENST00000684288.1:c.*2226C>T | ENSP00000507143.1:n.*2226C>T | |
| ENST00000684313.1:n.3701C>T | ||
| ENST00000684332.1:n.4342C>T | ||
| ENST00000684371.1:n.4375C>T | ||
| ENST00000684404.1:n.4312C>T | ||
| ENST00000684442.1:n.4493C>T | ||
| ENST00000684555.1:c.*2266C>T | ENSP00000507705.1:n.*2266C>T | |
| ENST00000684571.1:c.3895C>T | ENSP00000506935.1:p.Arg1299Cys | |
| ENST00000684593.1:c.*3759C>T | ENSP00000507005.1:n.*3759C>T | |
| ENST00000684711.1:c.*2450C>T | ENSP00000506841.1:n.*2450C>T | |
| ENST00000302539.9:c.4057C>T | ENSP00000303960.4:p.Arg1353Cys | |
| ENST00000389817.8:c.4054C>T MANE Select | ENSP00000374467.4:p.Arg1352Cys | |
| ENST00000642271.1:c.4051C>T | ENSP00000493749.1:p.Arg1351Cys | |
| ENST00000642579.1:c.2108C>T | ||
| ENST00000642611.1:n.4154C>T | ||
| ENST00000642902.1:c.3836C>T | ||
| ENST00000643260.1:c.4054C>T | ENSP00000494450.1:p.Arg1352Cys | |
| ENST00000643562.1:c.*2176C>T | ENSP00000496124.1:n.*2176C>T | |
| ENST00000643925.1:c.2694C>T | ||
| ENST00000644057.1:n.131C>T | ||
| ENST00000644484.1:c.*2455C>T | ENSP00000493558.1:n.*2455C>T | |
| ENST00000644675.1:c.*2226C>T | ENSP00000494567.1:n.*2226C>T | |
| ENST00000644757.1:c.*2485C>T | ENSP00000495085.1:n.*2485C>T | |
| ENST00000644772.1:c.4120C>T | ENSP00000494321.1:p.Arg1374Cys | |
| ENST00000645004.1:n.1709C>T | ||
| ENST00000645076.1:c.3253C>T | ||
| ENST00000645417.1:c.1242C>T | ||
| ENST00000645744.1:c.*2834C>T | ENSP00000494564.1:n.*2834C>T | |
| ENST00000645760.1:c.4475C>T | ||
| ENST00000645884.1:c.*1337C>T | ENSP00000495516.1:n.*1337C>T | |
| ENST00000646003.1:c.*2156C>T | ENSP00000495259.1:n.*2156C>T | |
| ENST00000646207.1:c.*2891C>T | ENSP00000495025.1:n.*2891C>T | |
| ENST00000646276.1:c.*2473C>T | ENSP00000496070.1:n.*2473C>T | |
| ENST00000646592.1:c.3360C>T | ||
| ENST00000646902.1:c.4021C>T | ENSP00000494101.1:p.Arg1341Cys | |
| ENST00000646993.1:c.*2596C>T | ENSP00000493720.1:n.*2596C>T | |
| ENST00000647013.1:c.4060C>T | ENSP00000496741.1:n.4060C>T | |
| ENST00000647015.1:c.3805C>T | ENSP00000495389.1:p.Arg1269Cys | |
| ENST00000647086.1:c.*3640C>T | ENSP00000493677.1:n.*3640C>T | |
| ENST00000647158.1:c.*2341C>T | ENSP00000495744.1:n.*2341C>T | |
| ENST00000302539.8:c.4057C>T | ENSP00000303960.4:p.Arg1353Cys | |
| ENST00000389817.7:c.4054C>T | ENSP00000374467.3:p.Arg1352Cys | |
| ENST00000527905.5:c.*1076C>T | ENSP00000431653.1:n.*1076C>T | |
| ENST00000528374.1:c.536C>T | ||
| ENST00000531137.1:n.619C>T | ||
| ENST00000531891.1:c.392C>T | ||
| ENST00000532220.1:n.528C>T | ||
| NM_000352.4:c.4054C>T | NP_000343.2:p.Arg1352Cys | |
| NM_001287174.1:c.4057C>T | NP_001274103.1:p.Arg1353Cys | |
| XM_011520331.1:c.4054C>T | XP_011518633.1:p.Arg1352Cys | |
| XM_011520332.1:c.4057C>T | XP_011518634.1:p.Arg1353Cys | |
| XM_011520333.1:c.2554C>T | XP_011518635.1:p.Arg852Cys | |
| XR_930890.1:n.4120C>T | ||
| NM_001351295.1:c.4120C>T | NP_001338224.1:p.Arg1374Cys | |
| NM_001351296.1:c.4054C>T | NP_001338225.1:p.Arg1352Cys | |
| NM_001351297.1:c.4051C>T | NP_001338226.1:p.Arg1351Cys | |
| NR_147094.1:n.4349C>T | ||
| XM_017018197.2:c.4123C>T | XP_016873686.1:p.Arg1375Cys | |
| XM_017018199.1:c.4120C>T | XP_016873688.1:p.Arg1374Cys | |
| XM_017018201.2:c.4123C>T | XP_016873690.1:p.Arg1375Cys | |
| XM_017018202.1:c.2620C>T | XP_016873691.1:p.Arg874Cys | |
| XM_017018204.1:c.2011C>T | XP_016873693.1:p.Arg671Cys | |
| XM_024448668.1:c.2422C>T | XP_024304436.1:p.Arg808Cys | |
| XR_001747945.2:n.4195C>T | ||
| XR_001747946.2:n.4126C>T | ||
| XR_002957189.1:n.4791C>T | ||
| NM_000352.6:c.4054C>T MANE Select | NP_000343.2:p.Arg1352Cys | |
| NM_001287174.2:c.4057C>T | NP_001274103.1:p.Arg1353Cys | |
| NM_001351295.2:c.4120C>T | NP_001338224.1:p.Arg1374Cys | |
| NM_001351296.2:c.4054C>T | NP_001338225.1:p.Arg1352Cys | |
| NM_001351297.2:c.4051C>T | NP_001338226.1:p.Arg1351Cys | |
| NR_147094.2:n.4349C>T | ||
| NM_001287174.3:c.4057C>T | NP_001274103.1:p.Arg1353Cys |