Linked Data
ClinVar Variation Id:
2884032
ClinVar RCV Id:
RCV003724222
dbSNP Id:
rs772332005
ExAC:
11:17415246 C / T
gnomAD v2:
11-17415246-C-T
gnomAD v4:
11-17393699-C-T
COSMIC:
COSM4031813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393699C>T , CM000673.2:g.17393699C>T | GRCh38 |
| NC_000011.9:g.17415246C>T , CM000673.1:g.17415246C>T | GRCh37 |
| NC_000011.8:g.17371822C>T | NCBI36 |
| NG_008867.1:g.88204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4207G>A | ||
| ENST00000526037.6:n.541G>A | ||
| ENST00000528374.2:c.1197G>A | ||
| ENST00000529967.6:n.2945G>A | ||
| ENST00000532220.2:n.3839G>A | ||
| ENST00000642611.2:n.5939G>A | ||
| ENST00000644057.2:n.1182G>A | ||
| ENST00000645004.2:n.2105G>A | ||
| ENST00000682051.1:n.4768G>A | ||
| ENST00000682110.1:n.4821G>A | ||
| ENST00000682140.1:c.*392G>A | ENSP00000507829.1:n.*392G>A | |
| ENST00000682185.1:n.5911G>A | ||
| ENST00000682204.1:c.*2744G>A | ENSP00000507094.1:n.*2744G>A | |
| ENST00000682215.1:n.5188G>A | ||
| ENST00000682288.1:c.*3037G>A | ENSP00000507506.1:n.*3037G>A | |
| ENST00000682442.1:n.5041G>A | ||
| ENST00000682528.1:n.4898G>A | ||
| ENST00000682673.1:n.4765G>A | ||
| ENST00000682805.1:n.5226G>A | ||
| ENST00000682965.1:c.*1028G>A | ENSP00000508229.1:n.*1028G>A | |
| ENST00000683093.1:n.5801G>A | ||
| ENST00000683136.1:c.4489G>A | ENSP00000507768.1:p.Ala1497Thr | |
| ENST00000683153.1:n.4863G>A | ||
| ENST00000683365.1:n.4923G>A | ||
| ENST00000683377.1:n.4717G>A | ||
| ENST00000683456.1:c.*1743G>A | ENSP00000508318.1:n.*1743G>A | |
| ENST00000683522.1:n.4903G>A | ||
| ENST00000683562.1:c.*2671G>A | ENSP00000508265.1:n.*2671G>A | |
| ENST00000683693.1:n.6282G>A | ||
| ENST00000683725.1:c.*71G>A | ENSP00000507496.1:n.*71G>A | |
| ENST00000684010.1:n.4816G>A | ||
| ENST00000684014.1:n.793G>A | ||
| ENST00000684157.1:n.5806G>A | ||
| ENST00000684253.1:n.4724G>A | ||
| ENST00000684288.1:c.*2778G>A | ENSP00000507143.1:n.*2778G>A | |
| ENST00000684313.1:n.4253G>A | ||
| ENST00000684332.1:n.4894G>A | ||
| ENST00000684371.1:n.4927G>A | ||
| ENST00000684404.1:n.5849G>A | ||
| ENST00000684442.1:n.5045G>A | ||
| ENST00000684555.1:c.*2818G>A | ENSP00000507705.1:n.*2818G>A | |
| ENST00000684571.1:c.4447G>A | ENSP00000506935.1:p.Ala1483Thr | |
| ENST00000684593.1:c.*4311G>A | ENSP00000507005.1:n.*4311G>A | |
| ENST00000684711.1:c.*3002G>A | ENSP00000506841.1:n.*3002G>A | |
| ENST00000302539.9:c.4609G>A | ENSP00000303960.4:p.Ala1537Thr | |
| ENST00000389817.8:c.4606G>A MANE Select | ENSP00000374467.4:p.Ala1536Thr | |
| ENST00000642271.1:c.4603G>A | ENSP00000493749.1:p.Ala1535Thr | |
| ENST00000642579.1:c.2660G>A | ||
| ENST00000642611.1:n.5824G>A | ||
| ENST00000642902.1:c.4388G>A | ||
| ENST00000643260.1:c.4606G>A | ENSP00000494450.1:p.Ala1536Thr | |
| ENST00000643562.1:c.*2728G>A | ENSP00000496124.1:n.*2728G>A | |
| ENST00000643925.1:c.3185+567G>A | ||
| ENST00000644057.1:n.765G>A | ||
| ENST00000644484.1:c.*3992G>A | ENSP00000493558.1:n.*3992G>A | |
| ENST00000644675.1:c.*2778G>A | ENSP00000494567.1:n.*2778G>A | |
| ENST00000644757.1:c.*3203-719G>A | ENSP00000495085.1:n.*3203-719G>A | |
| ENST00000644772.1:c.4672G>A | ENSP00000494321.1:p.Ala1558Thr | |
| ENST00000645004.1:n.2299G>A | ||
| ENST00000645076.1:c.3701G>A | ||
| ENST00000645417.1:c.1794G>A | ||
| ENST00000645744.1:c.*4291G>A | ENSP00000494564.1:n.*4291G>A | |
| ENST00000645760.1:c.5027G>A | ||
| ENST00000645884.1:c.*1889G>A | ENSP00000495516.1:n.*1889G>A | |
| ENST00000646003.1:c.*2628G>A | ENSP00000495259.1:n.*2628G>A | |
| ENST00000646207.1:c.*3443G>A | ENSP00000495025.1:n.*3443G>A | |
| ENST00000646276.1:c.*4010G>A | ENSP00000496070.1:n.*4010G>A | |
| ENST00000646592.1:c.3912G>A | ||
| ENST00000646902.1:c.4573G>A | ENSP00000494101.1:p.Ala1525Thr | |
| ENST00000646993.1:c.*3044G>A | ENSP00000493720.1:n.*3044G>A | |
| ENST00000647015.1:c.4357G>A | ENSP00000495389.1:p.Ala1453Thr | |
| ENST00000647086.1:c.*4192G>A | ENSP00000493677.1:n.*4192G>A | |
| ENST00000647158.1:c.*2893G>A | ENSP00000495744.1:n.*2893G>A | |
| ENST00000302539.8:c.4609G>A | ENSP00000303960.4:p.Ala1537Thr | |
| ENST00000389817.7:c.4606G>A | ENSP00000374467.3:p.Ala1536Thr | |
| ENST00000525022.1:n.501G>A | ||
| ENST00000526037.5:n.366G>A | ||
| ENST00000526168.5:c.394G>A | ||
| ENST00000531642.5:c.637G>A | ||
| NM_000352.4:c.4606G>A | NP_000343.2:p.Ala1536Thr | |
| NM_001287174.1:c.4609G>A | NP_001274103.1:p.Ala1537Thr | |
| XM_011520331.1:c.4606G>A | XP_011518633.1:p.Ala1536Thr | |
| XM_011520333.1:c.3106G>A | XP_011518635.1:p.Ala1036Thr | |
| XR_930890.1:n.4568G>A | ||
| NM_001351295.1:c.4672G>A | NP_001338224.1:p.Ala1558Thr | |
| NM_001351296.1:c.4606G>A | NP_001338225.1:p.Ala1536Thr | |
| NM_001351297.1:c.4603G>A | NP_001338226.1:p.Ala1535Thr | |
| NR_147094.1:n.4901G>A | ||
| XM_017018197.2:c.4675G>A | XP_016873686.1:p.Ala1559Thr | |
| XM_017018199.1:c.4672G>A | XP_016873688.1:p.Ala1558Thr | |
| XM_017018202.1:c.3172G>A | XP_016873691.1:p.Ala1058Thr | |
| XM_017018204.1:c.2563G>A | XP_016873693.1:p.Ala855Thr | |
| XM_024448668.1:c.2974G>A | XP_024304436.1:p.Ala992Thr | |
| XR_001747945.2:n.4643G>A | ||
| XR_001747946.2:n.4574G>A | ||
| XR_002957189.1:n.6357G>A | ||
| NM_000352.6:c.4606G>A MANE Select | NP_000343.2:p.Ala1536Thr | |
| NM_001287174.2:c.4609G>A | NP_001274103.1:p.Ala1537Thr | |
| NM_001351295.2:c.4672G>A | NP_001338224.1:p.Ala1558Thr | |
| NM_001351296.2:c.4606G>A | NP_001338225.1:p.Ala1536Thr | |
| NM_001351297.2:c.4603G>A | NP_001338226.1:p.Ala1535Thr | |
| NR_147094.2:n.4901G>A | ||
| NM_001287174.3:c.4609G>A | NP_001274103.1:p.Ala1537Thr |