UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
2999152
ClinVar RCV Id:
RCV003851783
dbSNP Id:
rs757110
ExAC:
11:17418477 C / T
gnomAD v2:
11-17418477-C-T
gnomAD v4:
11-17396930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396930C>T , CM000673.2:g.17396930C>T | GRCh38 |
| NC_000011.9:g.17418477C>T , CM000673.1:g.17418477C>T | GRCh37 |
| NC_000011.8:g.17375053C>T | NCBI36 |
| NG_008867.1:g.84973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3706G>A | ||
| ENST00000528374.2:c.696G>A | ||
| ENST00000529967.6:n.2444G>A | ||
| ENST00000532220.2:n.2353G>A | ||
| ENST00000642611.2:n.4320G>A | ||
| ENST00000644057.2:n.548G>A | ||
| ENST00000645004.2:n.1604G>A | ||
| ENST00000682051.1:n.4267G>A | ||
| ENST00000682110.1:n.4320G>A | ||
| ENST00000682140.1:c.3985+263G>A | ENSP00000507829.1:n.3985+263G>A | |
| ENST00000682185.1:n.5410G>A | ||
| ENST00000682204.1:c.*2243G>A | ENSP00000507094.1:n.*2243G>A | |
| ENST00000682215.1:n.4687G>A | ||
| ENST00000682288.1:c.*2536G>A | ENSP00000507506.1:n.*2536G>A | |
| ENST00000682442.1:n.4540G>A | ||
| ENST00000682528.1:n.4397G>A | ||
| ENST00000682673.1:n.4264G>A | ||
| ENST00000682805.1:n.4687G>A | ||
| ENST00000682965.1:c.*527G>A | ENSP00000508229.1:n.*527G>A | |
| ENST00000683093.1:n.4419G>A | ||
| ENST00000683136.1:c.3988G>A | ENSP00000507768.1:p.Ala1330Thr | |
| ENST00000683153.1:n.4362G>A | ||
| ENST00000683365.1:n.4422G>A | ||
| ENST00000683377.1:n.4320G>A | ||
| ENST00000683456.1:c.*1242G>A | ENSP00000508318.1:n.*1242G>A | |
| ENST00000683522.1:n.4320G>A | ||
| ENST00000683562.1:c.*2274G>A | ENSP00000508265.1:n.*2274G>A | |
| ENST00000683693.1:n.4767G>A | ||
| ENST00000683725.1:c.4105G>A | ENSP00000507496.1:p.Ala1369Thr | |
| ENST00000684010.1:n.4315G>A | ||
| ENST00000684157.1:n.4320G>A | ||
| ENST00000684253.1:n.4223G>A | ||
| ENST00000684288.1:c.*2277G>A | ENSP00000507143.1:n.*2277G>A | |
| ENST00000684313.1:n.3752G>A | ||
| ENST00000684332.1:n.4393G>A | ||
| ENST00000684371.1:n.4426G>A | ||
| ENST00000684404.1:n.4363G>A | ||
| ENST00000684442.1:n.4544G>A | ||
| ENST00000684555.1:c.*2317G>A | ENSP00000507705.1:n.*2317G>A | |
| ENST00000684571.1:c.3946G>A | ENSP00000506935.1:p.Ala1316Thr | |
| ENST00000684593.1:c.*3810G>A | ENSP00000507005.1:n.*3810G>A | |
| ENST00000684711.1:c.*2501G>A | ENSP00000506841.1:n.*2501G>A | |
| ENST00000302539.9:c.4108G>A | ENSP00000303960.4:p.Ala1370Thr | |
| ENST00000389817.8:c.4105G>A MANE Select | ENSP00000374467.4:p.Ala1369Thr | |
| ENST00000642271.1:c.4102G>A | ENSP00000493749.1:p.Ala1368Thr | |
| ENST00000642579.1:c.2159G>A | ||
| ENST00000642611.1:n.4205G>A | ||
| ENST00000642902.1:c.3887G>A | ||
| ENST00000643260.1:c.4105G>A | ENSP00000494450.1:p.Ala1369Thr | |
| ENST00000643562.1:c.*2227G>A | ENSP00000496124.1:n.*2227G>A | |
| ENST00000643925.1:c.2745G>A | ||
| ENST00000644057.1:n.182G>A | ||
| ENST00000644484.1:c.*2506G>A | ENSP00000493558.1:n.*2506G>A | |
| ENST00000644675.1:c.*2277G>A | ENSP00000494567.1:n.*2277G>A | |
| ENST00000644757.1:c.*2536G>A | ENSP00000495085.1:n.*2536G>A | |
| ENST00000644772.1:c.4171G>A | ENSP00000494321.1:p.Ala1391Thr | |
| ENST00000645004.1:n.1760G>A | ||
| ENST00000645076.1:c.3304G>A | ||
| ENST00000645417.1:c.1293G>A | ||
| ENST00000645744.1:c.*2885G>A | ENSP00000494564.1:n.*2885G>A | |
| ENST00000645760.1:c.4526G>A | ||
| ENST00000645884.1:c.*1388G>A | ENSP00000495516.1:n.*1388G>A | |
| ENST00000646003.1:c.*2207G>A | ENSP00000495259.1:n.*2207G>A | |
| ENST00000646207.1:c.*2942G>A | ENSP00000495025.1:n.*2942G>A | |
| ENST00000646276.1:c.*2524G>A | ENSP00000496070.1:n.*2524G>A | |
| ENST00000646592.1:c.3411G>A | ||
| ENST00000646902.1:c.4072G>A | ENSP00000494101.1:p.Ala1358Thr | |
| ENST00000646993.1:c.*2647G>A | ENSP00000493720.1:n.*2647G>A | |
| ENST00000647013.1:c.4111G>A | ENSP00000496741.1:n.4111G>A | |
| ENST00000647015.1:c.3856G>A | ENSP00000495389.1:p.Ala1286Thr | |
| ENST00000647086.1:c.*3691G>A | ENSP00000493677.1:n.*3691G>A | |
| ENST00000647158.1:c.*2392G>A | ENSP00000495744.1:n.*2392G>A | |
| ENST00000302539.8:c.4108G>A | ENSP00000303960.4:p.Ala1370Thr | |
| ENST00000389817.7:c.4105G>A | ENSP00000374467.3:p.Ala1369Thr | |
| ENST00000527905.5:c.*1127G>A | ENSP00000431653.1:n.*1127G>A | |
| ENST00000528374.1:c.587G>A | ||
| ENST00000532220.1:n.579G>A | ||
| NM_000352.4:c.4105G>A | NP_000343.2:p.Ala1369Thr | |
| NM_001287174.1:c.4108G>A | NP_001274103.1:p.Ala1370Thr | |
| XM_011520331.1:c.4105G>A | XP_011518633.1:p.Ala1369Thr | |
| XM_011520332.1:c.4108G>A | XP_011518634.1:p.Ala1370Thr | |
| XM_011520333.1:c.2605G>A | XP_011518635.1:p.Ala869Thr | |
| XR_930890.1:n.4171G>A | ||
| NM_001351295.1:c.4171G>A | NP_001338224.1:p.Ala1391Thr | |
| NM_001351296.1:c.4105G>A | NP_001338225.1:p.Ala1369Thr | |
| NM_001351297.1:c.4102G>A | NP_001338226.1:p.Ala1368Thr | |
| NR_147094.1:n.4400G>A | ||
| XM_017018197.2:c.4174G>A | XP_016873686.1:p.Ala1392Thr | |
| XM_017018199.1:c.4171G>A | XP_016873688.1:p.Ala1391Thr | |
| XM_017018201.2:c.4174G>A | XP_016873690.1:p.Ala1392Thr | |
| XM_017018202.1:c.2671G>A | XP_016873691.1:p.Ala891Thr | |
| XM_017018204.1:c.2062G>A | XP_016873693.1:p.Ala688Thr | |
| XM_024448668.1:c.2473G>A | XP_024304436.1:p.Ala825Thr | |
| XR_001747945.2:n.4246G>A | ||
| XR_001747946.2:n.4177G>A | ||
| XR_002957189.1:n.4842G>A | ||
| NM_000352.6:c.4105G>A MANE Select | NP_000343.2:p.Ala1369Thr | |
| NM_001287174.2:c.4108G>A | NP_001274103.1:p.Ala1370Thr | |
| NM_001351295.2:c.4171G>A | NP_001338224.1:p.Ala1391Thr | |
| NM_001351296.2:c.4105G>A | NP_001338225.1:p.Ala1369Thr | |
| NM_001351297.2:c.4102G>A | NP_001338226.1:p.Ala1368Thr | |
| NR_147094.2:n.4400G>A | ||
| NM_001287174.3:c.4108G>A | NP_001274103.1:p.Ala1370Thr |