Linked Data
ClinVar Variation Id:
1079112
ClinVar RCV Id:
RCV001394261
dbSNP Id:
rs2133390078
gnomAD v4:
11-17393063-C-T
MyVariant Identifiers:
chr11:g.17414610C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393063C>T , CM000673.2:g.17393063C>T | GRCh38 |
| NC_000011.9:g.17414610C>T , CM000673.1:g.17414610C>T | GRCh37 |
| NC_000011.8:g.17371186C>T | NCBI36 |
| NG_008867.1:g.88840G>A | |
| NG_012446.1:g.597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4275G>A | ||
| ENST00000526037.6:n.609G>A | ||
| ENST00000528374.2:c.1265G>A | ||
| ENST00000529967.6:n.3013G>A | ||
| ENST00000532220.2:n.3907G>A | ||
| ENST00000642611.2:n.6007G>A | ||
| ENST00000644057.2:n.1250G>A | ||
| ENST00000645004.2:n.2173G>A | ||
| ENST00000682051.1:n.4836G>A | ||
| ENST00000682110.1:n.4889G>A | ||
| ENST00000682140.1:c.*460G>A | ENSP00000507829.1:n.*460G>A | |
| ENST00000682185.1:n.5979G>A | ||
| ENST00000682204.1:c.*2812G>A | ENSP00000507094.1:n.*2812G>A | |
| ENST00000682215.1:n.5256G>A | ||
| ENST00000682288.1:c.*3105G>A | ENSP00000507506.1:n.*3105G>A | |
| ENST00000682442.1:n.5109G>A | ||
| ENST00000682528.1:n.4966G>A | ||
| ENST00000682673.1:n.4833G>A | ||
| ENST00000682805.1:n.5294G>A | ||
| ENST00000682965.1:c.*1096G>A | ENSP00000508229.1:n.*1096G>A | |
| ENST00000683093.1:n.5869G>A | ||
| ENST00000683136.1:c.4557G>A | ENSP00000507768.1:p.Glu1519= | |
| ENST00000683153.1:n.4931G>A | ||
| ENST00000683365.1:n.4991G>A | ||
| ENST00000683377.1:n.4785G>A | ||
| ENST00000683456.1:c.*1811G>A | ENSP00000508318.1:n.*1811G>A | |
| ENST00000683522.1:n.4971G>A | ||
| ENST00000683562.1:c.*2739G>A | ENSP00000508265.1:n.*2739G>A | |
| ENST00000683693.1:n.6350G>A | ||
| ENST00000683725.1:c.*139G>A | ENSP00000507496.1:n.*139G>A | |
| ENST00000684010.1:n.4884G>A | ||
| ENST00000684014.1:n.861G>A | ||
| ENST00000684157.1:n.5874G>A | ||
| ENST00000684253.1:n.4792G>A | ||
| ENST00000684288.1:c.*2846G>A | ENSP00000507143.1:n.*2846G>A | |
| ENST00000684313.1:n.4321G>A | ||
| ENST00000684332.1:n.4962G>A | ||
| ENST00000684371.1:n.4995G>A | ||
| ENST00000684404.1:n.5917G>A | ||
| ENST00000684442.1:n.5113G>A | ||
| ENST00000684555.1:c.*2886G>A | ENSP00000507705.1:n.*2886G>A | |
| ENST00000684571.1:c.4515G>A | ENSP00000506935.1:p.Glu1505= | |
| ENST00000684593.1:c.*4379G>A | ENSP00000507005.1:n.*4379G>A | |
| ENST00000684711.1:c.*3070G>A | ENSP00000506841.1:n.*3070G>A | |
| ENST00000302539.9:c.4677G>A | ENSP00000303960.4:p.Glu1559= | |
| ENST00000389817.8:c.4674G>A MANE Select | ENSP00000374467.4:p.Glu1558= | |
| ENST00000642271.1:c.4671G>A | ENSP00000493749.1:p.Glu1557= | |
| ENST00000642579.1:c.2728G>A | ||
| ENST00000642611.1:n.5892G>A | ||
| ENST00000642902.1:c.4456G>A | ||
| ENST00000643260.1:c.4674G>A | ENSP00000494450.1:p.Glu1558= | |
| ENST00000643562.1:c.*2796G>A | ENSP00000496124.1:n.*2796G>A | |
| ENST00000643925.1:c.3251G>A | ||
| ENST00000644057.1:n.833G>A | ||
| ENST00000644484.1:c.*4060G>A | ENSP00000493558.1:n.*4060G>A | |
| ENST00000644675.1:c.*2846G>A | ENSP00000494567.1:n.*2846G>A | |
| ENST00000644757.1:c.*3203-83G>A | ENSP00000495085.1:n.*3203-83G>A | |
| ENST00000644772.1:c.4740G>A | ENSP00000494321.1:p.Glu1580= | |
| ENST00000645004.1:n.2367G>A | ||
| ENST00000645076.1:c.3769G>A | ||
| ENST00000645760.1:c.5095G>A | ||
| ENST00000645884.1:c.*1957G>A | ENSP00000495516.1:n.*1957G>A | |
| ENST00000646003.1:c.*2696G>A | ENSP00000495259.1:n.*2696G>A | |
| ENST00000646207.1:c.*3511G>A | ENSP00000495025.1:n.*3511G>A | |
| ENST00000646592.1:c.3980G>A | ||
| ENST00000646902.1:c.4641G>A | ENSP00000494101.1:p.Glu1547= | |
| ENST00000646993.1:c.*3112G>A | ENSP00000493720.1:n.*3112G>A | |
| ENST00000647015.1:c.4425G>A | ENSP00000495389.1:p.Glu1475= | |
| ENST00000647086.1:c.*4260G>A | ENSP00000493677.1:n.*4260G>A | |
| ENST00000302539.8:c.4677G>A | ENSP00000303960.4:p.Glu1559= | |
| ENST00000389817.7:c.4674G>A | ENSP00000374467.3:p.Glu1558= | |
| ENST00000525022.1:n.653G>A | ||
| ENST00000526037.5:n.434G>A | ||
| ENST00000526168.5:c.462G>A | ||
| ENST00000531642.5:c.705G>A | ||
| NM_000352.4:c.4674G>A | NP_000343.2:p.Glu1558= | |
| NM_001287174.1:c.4677G>A | NP_001274103.1:p.Glu1559= | |
| XM_011520331.1:c.4674G>A | XP_011518633.1:p.Glu1558= | |
| XM_011520333.1:c.3174G>A | XP_011518635.1:p.Glu1058= | |
| XR_930890.1:n.4636G>A | ||
| NM_001351295.1:c.4740G>A | NP_001338224.1:p.Glu1580= | |
| NM_001351296.1:c.4674G>A | NP_001338225.1:p.Glu1558= | |
| NM_001351297.1:c.4671G>A | NP_001338226.1:p.Glu1557= | |
| NR_147094.1:n.4969G>A | ||
| XM_017018197.2:c.4743G>A | XP_016873686.1:p.Glu1581= | |
| XM_017018199.1:c.4740G>A | XP_016873688.1:p.Glu1580= | |
| XM_017018202.1:c.3240G>A | XP_016873691.1:p.Glu1080= | |
| XM_017018204.1:c.2631G>A | XP_016873693.1:p.Glu877= | |
| XM_024448668.1:c.3042G>A | XP_024304436.1:p.Glu1014= | |
| XR_001747945.2:n.4711G>A | ||
| XR_001747946.2:n.4642G>A | ||
| XR_002957189.1:n.6425G>A | ||
| NM_000352.6:c.4674G>A MANE Select | NP_000343.2:p.Glu1558= | |
| NM_001287174.2:c.4677G>A | NP_001274103.1:p.Glu1559= | |
| NM_001351295.2:c.4740G>A | NP_001338224.1:p.Glu1580= | |
| NM_001351296.2:c.4674G>A | NP_001338225.1:p.Glu1558= | |
| NM_001351297.2:c.4671G>A | NP_001338226.1:p.Glu1557= | |
| NR_147094.2:n.4969G>A | ||
| NM_001287174.3:c.4677G>A | NP_001274103.1:p.Glu1559= |