Linked Data
ClinVar Variation Id:
35617
ClinVar RCV Id:
RCV000169593
dbSNP Id:
rs193922402
ExAC:
11:17417158 G / A
gnomAD v2:
11-17417158-G-A
gnomAD v3:
11-17395611-G-A
gnomAD v4:
11-17395611-G-A
COSMIC:
COSM5753640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395611G>A , CM000673.2:g.17395611G>A | GRCh38 |
| NC_000011.9:g.17417158G>A , CM000673.1:g.17417158G>A | GRCh37 |
| NC_000011.8:g.17373734G>A | NCBI36 |
| NG_008867.1:g.86292C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3907C>T | ||
| ENST00000528374.2:c.897C>T | ||
| ENST00000529967.6:n.2645C>T | ||
| ENST00000532220.2:n.3539C>T | ||
| ENST00000642611.2:n.5639C>T | ||
| ENST00000644057.2:n.882C>T | ||
| ENST00000645004.2:n.1805C>T | ||
| ENST00000682051.1:n.4468C>T | ||
| ENST00000682110.1:n.4521C>T | ||
| ENST00000682140.1:c.*92C>T | ENSP00000507829.1:n.*92C>T | |
| ENST00000682185.1:n.5611C>T | ||
| ENST00000682204.1:c.*2444C>T | ENSP00000507094.1:n.*2444C>T | |
| ENST00000682215.1:n.4888C>T | ||
| ENST00000682288.1:c.*2737C>T | ENSP00000507506.1:n.*2737C>T | |
| ENST00000682442.1:n.4741C>T | ||
| ENST00000682528.1:n.4598C>T | ||
| ENST00000682673.1:n.4465C>T | ||
| ENST00000682805.1:n.4926C>T | ||
| ENST00000682965.1:c.*728C>T | ENSP00000508229.1:n.*728C>T | |
| ENST00000683093.1:n.5605C>T | ||
| ENST00000683136.1:c.4189C>T | ENSP00000507768.1:p.Arg1397Ter | |
| ENST00000683153.1:n.4563C>T | ||
| ENST00000683365.1:n.4623C>T | ||
| ENST00000683377.1:n.4521C>T | ||
| ENST00000683456.1:c.*1443C>T | ENSP00000508318.1:n.*1443C>T | |
| ENST00000683522.1:n.4521C>T | ||
| ENST00000683562.1:c.*2475C>T | ENSP00000508265.1:n.*2475C>T | |
| ENST00000683693.1:n.6086C>T | ||
| ENST00000683725.1:c.4306C>T | ENSP00000507496.1:p.Arg1436Ter | |
| ENST00000684010.1:n.4516C>T | ||
| ENST00000684157.1:n.5506C>T | ||
| ENST00000684253.1:n.4424C>T | ||
| ENST00000684288.1:c.*2478C>T | ENSP00000507143.1:n.*2478C>T | |
| ENST00000684313.1:n.3953C>T | ||
| ENST00000684332.1:n.4594C>T | ||
| ENST00000684371.1:n.4627C>T | ||
| ENST00000684404.1:n.5549C>T | ||
| ENST00000684442.1:n.4745C>T | ||
| ENST00000684555.1:c.*2518C>T | ENSP00000507705.1:n.*2518C>T | |
| ENST00000684571.1:c.4147C>T | ENSP00000506935.1:p.Arg1383Ter | |
| ENST00000684593.1:c.*4011C>T | ENSP00000507005.1:n.*4011C>T | |
| ENST00000684711.1:c.*2702C>T | ENSP00000506841.1:n.*2702C>T | |
| ENST00000302539.9:c.4309C>T | ENSP00000303960.4:p.Arg1437Ter | |
| ENST00000389817.8:c.4306C>T MANE Select | ENSP00000374467.4:p.Arg1436Ter | |
| ENST00000642271.1:c.4303C>T | ENSP00000493749.1:p.Arg1435Ter | |
| ENST00000642579.1:c.2360C>T | ||
| ENST00000642611.1:n.5524C>T | ||
| ENST00000642902.1:c.4088C>T | ||
| ENST00000643260.1:c.4306C>T | ENSP00000494450.1:p.Arg1436Ter | |
| ENST00000643562.1:c.*2428C>T | ENSP00000496124.1:n.*2428C>T | |
| ENST00000643925.1:c.2946C>T | ||
| ENST00000644057.1:n.383C>T | ||
| ENST00000644484.1:c.*3692C>T | ENSP00000493558.1:n.*3692C>T | |
| ENST00000644675.1:c.*2478C>T | ENSP00000494567.1:n.*2478C>T | |
| ENST00000644757.1:c.*3202+653C>T | ENSP00000495085.1:n.*3202+653C>T | |
| ENST00000644772.1:c.4372C>T | ENSP00000494321.1:p.Arg1458Ter | |
| ENST00000645004.1:n.1999C>T | ||
| ENST00000645076.1:c.3505C>T | ||
| ENST00000645417.1:c.1494C>T | ||
| ENST00000645744.1:c.*3991C>T | ENSP00000494564.1:n.*3991C>T | |
| ENST00000645760.1:c.4727C>T | ||
| ENST00000645884.1:c.*1589C>T | ENSP00000495516.1:n.*1589C>T | |
| ENST00000646003.1:c.*2328C>T | ENSP00000495259.1:n.*2328C>T | |
| ENST00000646207.1:c.*3143C>T | ENSP00000495025.1:n.*3143C>T | |
| ENST00000646276.1:c.*3710C>T | ENSP00000496070.1:n.*3710C>T | |
| ENST00000646592.1:c.3612C>T | ||
| ENST00000646902.1:c.4273C>T | ENSP00000494101.1:p.Arg1425Ter | |
| ENST00000646993.1:c.*2848C>T | ENSP00000493720.1:n.*2848C>T | |
| ENST00000647013.1:c.4312C>T | ENSP00000496741.1:n.4312C>T | |
| ENST00000647015.1:c.4057C>T | ENSP00000495389.1:p.Arg1353Ter | |
| ENST00000647086.1:c.*3892C>T | ENSP00000493677.1:n.*3892C>T | |
| ENST00000647158.1:c.*2593C>T | ENSP00000495744.1:n.*2593C>T | |
| ENST00000302539.8:c.4309C>T | ENSP00000303960.4:p.Arg1437Ter | |
| ENST00000389817.7:c.4306C>T | ENSP00000374467.3:p.Arg1436Ter | |
| ENST00000525022.1:n.305C>T | ||
| ENST00000526037.5:n.170C>T | ||
| ENST00000526168.5:c.94C>T | ||
| ENST00000531642.5:c.142C>T | ||
| NM_000352.4:c.4306C>T | NP_000343.2:p.Arg1436Ter | |
| NM_001287174.1:c.4309C>T | NP_001274103.1:p.Arg1437Ter | |
| XM_011520331.1:c.4306C>T | XP_011518633.1:p.Arg1436Ter | |
| XM_011520332.1:c.4309C>T | XP_011518634.1:p.Arg1437Ter | |
| XM_011520333.1:c.2806C>T | XP_011518635.1:p.Arg936Ter | |
| XR_930890.1:n.4372C>T | ||
| NM_001351295.1:c.4372C>T | NP_001338224.1:p.Arg1458Ter | |
| NM_001351296.1:c.4306C>T | NP_001338225.1:p.Arg1436Ter | |
| NM_001351297.1:c.4303C>T | NP_001338226.1:p.Arg1435Ter | |
| NR_147094.1:n.4601C>T | ||
| XM_017018197.2:c.4375C>T | XP_016873686.1:p.Arg1459Ter | |
| XM_017018199.1:c.4372C>T | XP_016873688.1:p.Arg1458Ter | |
| XM_017018201.2:c.4375C>T | XP_016873690.1:p.Arg1459Ter | |
| XM_017018202.1:c.2872C>T | XP_016873691.1:p.Arg958Ter | |
| XM_017018204.1:c.2263C>T | XP_016873693.1:p.Arg755Ter | |
| XM_024448668.1:c.2674C>T | XP_024304436.1:p.Arg892Ter | |
| XR_001747945.2:n.4447C>T | ||
| XR_001747946.2:n.4378C>T | ||
| XR_002957189.1:n.6161C>T | ||
| NM_000352.6:c.4306C>T MANE Select | NP_000343.2:p.Arg1436Ter | |
| NM_001287174.2:c.4309C>T | NP_001274103.1:p.Arg1437Ter | |
| NM_001351295.2:c.4372C>T | NP_001338224.1:p.Arg1458Ter | |
| NM_001351296.2:c.4306C>T | NP_001338225.1:p.Arg1436Ter | |
| NM_001351297.2:c.4303C>T | NP_001338226.1:p.Arg1435Ter | |
| NR_147094.2:n.4601C>T | ||
| NM_001287174.3:c.4309C>T | NP_001274103.1:p.Arg1437Ter |