Linked Data
dbSNP Id:
rs146584228
gnomAD v3:
11-17395690-G-T
gnomAD v4:
11-17395690-G-T
MyVariant Identifiers:
chr11:g.17417237G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395690G>T , CM000673.2:g.17395690G>T | GRCh38 |
| NC_000011.9:g.17417237G>T , CM000673.1:g.17417237G>T | GRCh37 |
| NC_000011.8:g.17373813G>T | NCBI36 |
| NG_008867.1:g.86213C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3828C>A | ||
| ENST00000528374.2:c.818C>A | ||
| ENST00000529967.6:n.2566C>A | ||
| ENST00000532220.2:n.3460C>A | ||
| ENST00000642611.2:n.5560C>A | ||
| ENST00000644057.2:n.803C>A | ||
| ENST00000645004.2:n.1726C>A | ||
| ENST00000682051.1:n.4389C>A | ||
| ENST00000682110.1:n.4442C>A | ||
| ENST00000682140.1:c.*13C>A | ENSP00000507829.1:n.*13C>A | |
| ENST00000682185.1:n.5532C>A | ||
| ENST00000682204.1:c.*2365C>A | ENSP00000507094.1:n.*2365C>A | |
| ENST00000682215.1:n.4809C>A | ||
| ENST00000682288.1:c.*2658C>A | ENSP00000507506.1:n.*2658C>A | |
| ENST00000682442.1:n.4662C>A | ||
| ENST00000682528.1:n.4519C>A | ||
| ENST00000682673.1:n.4386C>A | ||
| ENST00000682805.1:n.4847C>A | ||
| ENST00000682965.1:c.*649C>A | ENSP00000508229.1:n.*649C>A | |
| ENST00000683093.1:n.5526C>A | ||
| ENST00000683136.1:c.4110C>A | ENSP00000507768.1:p.Ile1370= | |
| ENST00000683153.1:n.4484C>A | ||
| ENST00000683365.1:n.4544C>A | ||
| ENST00000683377.1:n.4442C>A | ||
| ENST00000683456.1:c.*1364C>A | ENSP00000508318.1:n.*1364C>A | |
| ENST00000683522.1:n.4442C>A | ||
| ENST00000683562.1:c.*2396C>A | ENSP00000508265.1:n.*2396C>A | |
| ENST00000683693.1:n.6007C>A | ||
| ENST00000683725.1:c.4227C>A | ENSP00000507496.1:p.Ile1409= | |
| ENST00000684010.1:n.4437C>A | ||
| ENST00000684157.1:n.5427C>A | ||
| ENST00000684253.1:n.4345C>A | ||
| ENST00000684288.1:c.*2399C>A | ENSP00000507143.1:n.*2399C>A | |
| ENST00000684313.1:n.3874C>A | ||
| ENST00000684332.1:n.4515C>A | ||
| ENST00000684371.1:n.4548C>A | ||
| ENST00000684404.1:n.5470C>A | ||
| ENST00000684442.1:n.4666C>A | ||
| ENST00000684555.1:c.*2439C>A | ENSP00000507705.1:n.*2439C>A | |
| ENST00000684571.1:c.4068C>A | ENSP00000506935.1:p.Ile1356= | |
| ENST00000684593.1:c.*3932C>A | ENSP00000507005.1:n.*3932C>A | |
| ENST00000684711.1:c.*2623C>A | ENSP00000506841.1:n.*2623C>A | |
| ENST00000302539.9:c.4230C>A | ENSP00000303960.4:p.Ile1410= | |
| ENST00000389817.8:c.4227C>A MANE Select | ENSP00000374467.4:p.Ile1409= | |
| ENST00000642271.1:c.4224C>A | ENSP00000493749.1:p.Ile1408= | |
| ENST00000642579.1:c.2281C>A | ||
| ENST00000642611.1:n.5445C>A | ||
| ENST00000642902.1:c.4009C>A | ||
| ENST00000643260.1:c.4227C>A | ENSP00000494450.1:p.Ile1409= | |
| ENST00000643562.1:c.*2349C>A | ENSP00000496124.1:n.*2349C>A | |
| ENST00000643925.1:c.2867C>A | ||
| ENST00000644057.1:n.304C>A | ||
| ENST00000644484.1:c.*3613C>A | ENSP00000493558.1:n.*3613C>A | |
| ENST00000644675.1:c.*2399C>A | ENSP00000494567.1:n.*2399C>A | |
| ENST00000644757.1:c.*3202+574C>A | ENSP00000495085.1:n.*3202+574C>A | |
| ENST00000644772.1:c.4293C>A | ENSP00000494321.1:p.Ile1431= | |
| ENST00000645004.1:n.1920C>A | ||
| ENST00000645076.1:c.3426C>A | ||
| ENST00000645417.1:c.1415C>A | ||
| ENST00000645744.1:c.*3964-52C>A | ENSP00000494564.1:n.*3964-52C>A | |
| ENST00000645760.1:c.4648C>A | ||
| ENST00000645884.1:c.*1510C>A | ENSP00000495516.1:n.*1510C>A | |
| ENST00000646003.1:c.*2301-52C>A | ENSP00000495259.1:n.*2301-52C>A | |
| ENST00000646207.1:c.*3064C>A | ENSP00000495025.1:n.*3064C>A | |
| ENST00000646276.1:c.*3631C>A | ENSP00000496070.1:n.*3631C>A | |
| ENST00000646592.1:c.3533C>A | ||
| ENST00000646902.1:c.4194C>A | ENSP00000494101.1:p.Ile1398= | |
| ENST00000646993.1:c.*2769C>A | ENSP00000493720.1:n.*2769C>A | |
| ENST00000647013.1:c.4233C>A | ENSP00000496741.1:n.4233C>A | |
| ENST00000647015.1:c.3978C>A | ENSP00000495389.1:p.Ile1326= | |
| ENST00000647086.1:c.*3813C>A | ENSP00000493677.1:n.*3813C>A | |
| ENST00000647158.1:c.*2514C>A | ENSP00000495744.1:n.*2514C>A | |
| ENST00000302539.8:c.4230C>A | ENSP00000303960.4:p.Ile1410= | |
| ENST00000389817.7:c.4227C>A | ENSP00000374467.3:p.Ile1409= | |
| ENST00000525022.1:n.226C>A | ||
| ENST00000526037.5:n.91C>A | ||
| ENST00000526168.5:c.67-52C>A | ||
| ENST00000531642.5:c.63C>A | ||
| NM_000352.4:c.4227C>A | NP_000343.2:p.Ile1409= | |
| NM_001287174.1:c.4230C>A | NP_001274103.1:p.Ile1410= | |
| XM_011520331.1:c.4227C>A | XP_011518633.1:p.Ile1409= | |
| XM_011520332.1:c.4230C>A | XP_011518634.1:p.Ile1410= | |
| XM_011520333.1:c.2727C>A | XP_011518635.1:p.Ile909= | |
| XR_930890.1:n.4293C>A | ||
| NM_001351295.1:c.4293C>A | NP_001338224.1:p.Ile1431= | |
| NM_001351296.1:c.4227C>A | NP_001338225.1:p.Ile1409= | |
| NM_001351297.1:c.4224C>A | NP_001338226.1:p.Ile1408= | |
| NR_147094.1:n.4522C>A | ||
| XM_017018197.2:c.4296C>A | XP_016873686.1:p.Ile1432= | |
| XM_017018199.1:c.4293C>A | XP_016873688.1:p.Ile1431= | |
| XM_017018201.2:c.4296C>A | XP_016873690.1:p.Ile1432= | |
| XM_017018202.1:c.2793C>A | XP_016873691.1:p.Ile931= | |
| XM_017018204.1:c.2184C>A | XP_016873693.1:p.Ile728= | |
| XM_024448668.1:c.2595C>A | XP_024304436.1:p.Ile865= | |
| XR_001747945.2:n.4368C>A | ||
| XR_001747946.2:n.4299C>A | ||
| XR_002957189.1:n.6082C>A | ||
| NM_000352.6:c.4227C>A MANE Select | NP_000343.2:p.Ile1409= | |
| NM_001287174.2:c.4230C>A | NP_001274103.1:p.Ile1410= | |
| NM_001351295.2:c.4293C>A | NP_001338224.1:p.Ile1431= | |
| NM_001351296.2:c.4227C>A | NP_001338225.1:p.Ile1409= | |
| NM_001351297.2:c.4224C>A | NP_001338226.1:p.Ile1408= | |
| NR_147094.2:n.4522C>A | ||
| NM_001287174.3:c.4230C>A | NP_001274103.1:p.Ile1410= |