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:
556519
dbSNP Id:
rs745918247
ExAC:
11:17415245 G / A
gnomAD v2:
11-17415245-G-A
gnomAD v3:
11-17393698-G-A
gnomAD v4:
11-17393698-G-A
COSMIC:
COSM2091585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393698G>A , CM000673.2:g.17393698G>A | GRCh38 |
| NC_000011.9:g.17415245G>A , CM000673.1:g.17415245G>A | GRCh37 |
| NC_000011.8:g.17371821G>A | NCBI36 |
| NG_008867.1:g.88205C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4208C>T | ||
| ENST00000526037.6:n.542C>T | ||
| ENST00000528374.2:c.1198C>T | ||
| ENST00000529967.6:n.2946C>T | ||
| ENST00000532220.2:n.3840C>T | ||
| ENST00000642611.2:n.5940C>T | ||
| ENST00000644057.2:n.1183C>T | ||
| ENST00000645004.2:n.2106C>T | ||
| ENST00000682051.1:n.4769C>T | ||
| ENST00000682110.1:n.4822C>T | ||
| ENST00000682140.1:c.*393C>T | ENSP00000507829.1:n.*393C>T | |
| ENST00000682185.1:n.5912C>T | ||
| ENST00000682204.1:c.*2745C>T | ENSP00000507094.1:n.*2745C>T | |
| ENST00000682215.1:n.5189C>T | ||
| ENST00000682288.1:c.*3038C>T | ENSP00000507506.1:n.*3038C>T | |
| ENST00000682442.1:n.5042C>T | ||
| ENST00000682528.1:n.4899C>T | ||
| ENST00000682673.1:n.4766C>T | ||
| ENST00000682805.1:n.5227C>T | ||
| ENST00000682965.1:c.*1029C>T | ENSP00000508229.1:n.*1029C>T | |
| ENST00000683093.1:n.5802C>T | ||
| ENST00000683136.1:c.4490C>T | ENSP00000507768.1:p.Ala1497Val | |
| ENST00000683153.1:n.4864C>T | ||
| ENST00000683365.1:n.4924C>T | ||
| ENST00000683377.1:n.4718C>T | ||
| ENST00000683456.1:c.*1744C>T | ENSP00000508318.1:n.*1744C>T | |
| ENST00000683522.1:n.4904C>T | ||
| ENST00000683562.1:c.*2672C>T | ENSP00000508265.1:n.*2672C>T | |
| ENST00000683693.1:n.6283C>T | ||
| ENST00000683725.1:c.*72C>T | ENSP00000507496.1:n.*72C>T | |
| ENST00000684010.1:n.4817C>T | ||
| ENST00000684014.1:n.794C>T | ||
| ENST00000684157.1:n.5807C>T | ||
| ENST00000684253.1:n.4725C>T | ||
| ENST00000684288.1:c.*2779C>T | ENSP00000507143.1:n.*2779C>T | |
| ENST00000684313.1:n.4254C>T | ||
| ENST00000684332.1:n.4895C>T | ||
| ENST00000684371.1:n.4928C>T | ||
| ENST00000684404.1:n.5850C>T | ||
| ENST00000684442.1:n.5046C>T | ||
| ENST00000684555.1:c.*2819C>T | ENSP00000507705.1:n.*2819C>T | |
| ENST00000684571.1:c.4448C>T | ENSP00000506935.1:p.Ala1483Val | |
| ENST00000684593.1:c.*4312C>T | ENSP00000507005.1:n.*4312C>T | |
| ENST00000684711.1:c.*3003C>T | ENSP00000506841.1:n.*3003C>T | |
| ENST00000302539.9:c.4610C>T | ENSP00000303960.4:p.Ala1537Val | |
| ENST00000389817.8:c.4607C>T MANE Select | ENSP00000374467.4:p.Ala1536Val | |
| ENST00000642271.1:c.4604C>T | ENSP00000493749.1:p.Ala1535Val | |
| ENST00000642579.1:c.2661C>T | ||
| ENST00000642611.1:n.5825C>T | ||
| ENST00000642902.1:c.4389C>T | ||
| ENST00000643260.1:c.4607C>T | ENSP00000494450.1:p.Ala1536Val | |
| ENST00000643562.1:c.*2729C>T | ENSP00000496124.1:n.*2729C>T | |
| ENST00000643925.1:c.3185+568C>T | ||
| ENST00000644057.1:n.766C>T | ||
| ENST00000644484.1:c.*3993C>T | ENSP00000493558.1:n.*3993C>T | |
| ENST00000644675.1:c.*2779C>T | ENSP00000494567.1:n.*2779C>T | |
| ENST00000644757.1:c.*3203-718C>T | ENSP00000495085.1:n.*3203-718C>T | |
| ENST00000644772.1:c.4673C>T | ENSP00000494321.1:p.Ala1558Val | |
| ENST00000645004.1:n.2300C>T | ||
| ENST00000645076.1:c.3702C>T | ||
| ENST00000645417.1:c.1795C>T | ||
| ENST00000645744.1:c.*4292C>T | ENSP00000494564.1:n.*4292C>T | |
| ENST00000645760.1:c.5028C>T | ||
| ENST00000645884.1:c.*1890C>T | ENSP00000495516.1:n.*1890C>T | |
| ENST00000646003.1:c.*2629C>T | ENSP00000495259.1:n.*2629C>T | |
| ENST00000646207.1:c.*3444C>T | ENSP00000495025.1:n.*3444C>T | |
| ENST00000646276.1:c.*4011C>T | ENSP00000496070.1:n.*4011C>T | |
| ENST00000646592.1:c.3913C>T | ||
| ENST00000646902.1:c.4574C>T | ENSP00000494101.1:p.Ala1525Val | |
| ENST00000646993.1:c.*3045C>T | ENSP00000493720.1:n.*3045C>T | |
| ENST00000647015.1:c.4358C>T | ENSP00000495389.1:p.Ala1453Val | |
| ENST00000647086.1:c.*4193C>T | ENSP00000493677.1:n.*4193C>T | |
| ENST00000647158.1:c.*2894C>T | ENSP00000495744.1:n.*2894C>T | |
| ENST00000302539.8:c.4610C>T | ENSP00000303960.4:p.Ala1537Val | |
| ENST00000389817.7:c.4607C>T | ENSP00000374467.3:p.Ala1536Val | |
| ENST00000525022.1:n.502C>T | ||
| ENST00000526037.5:n.367C>T | ||
| ENST00000526168.5:c.395C>T | ||
| ENST00000531642.5:c.638C>T | ||
| NM_000352.4:c.4607C>T | NP_000343.2:p.Ala1536Val | |
| NM_001287174.1:c.4610C>T | NP_001274103.1:p.Ala1537Val | |
| XM_011520331.1:c.4607C>T | XP_011518633.1:p.Ala1536Val | |
| XM_011520333.1:c.3107C>T | XP_011518635.1:p.Ala1036Val | |
| XR_930890.1:n.4569C>T | ||
| NM_001351295.1:c.4673C>T | NP_001338224.1:p.Ala1558Val | |
| NM_001351296.1:c.4607C>T | NP_001338225.1:p.Ala1536Val | |
| NM_001351297.1:c.4604C>T | NP_001338226.1:p.Ala1535Val | |
| NR_147094.1:n.4902C>T | ||
| XM_017018197.2:c.4676C>T | XP_016873686.1:p.Ala1559Val | |
| XM_017018199.1:c.4673C>T | XP_016873688.1:p.Ala1558Val | |
| XM_017018202.1:c.3173C>T | XP_016873691.1:p.Ala1058Val | |
| XM_017018204.1:c.2564C>T | XP_016873693.1:p.Ala855Val | |
| XM_024448668.1:c.2975C>T | XP_024304436.1:p.Ala992Val | |
| XR_001747945.2:n.4644C>T | ||
| XR_001747946.2:n.4575C>T | ||
| XR_002957189.1:n.6358C>T | ||
| NM_000352.6:c.4607C>T MANE Select | NP_000343.2:p.Ala1536Val | |
| NM_001287174.2:c.4610C>T | NP_001274103.1:p.Ala1537Val | |
| NM_001351295.2:c.4673C>T | NP_001338224.1:p.Ala1558Val | |
| NM_001351296.2:c.4607C>T | NP_001338225.1:p.Ala1536Val | |
| NM_001351297.2:c.4604C>T | NP_001338226.1:p.Ala1535Val | |
| NR_147094.2:n.4902C>T | ||
| NM_001287174.3:c.4610C>T | NP_001274103.1:p.Ala1537Val |