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
dbSNP Id:
rs28936371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394334G>C , CM000673.2:g.17394334G>C | GRCh38 |
| NC_000011.9:g.17415881G>C , CM000673.1:g.17415881G>C | GRCh37 |
| NC_000011.8:g.17372457G>C | NCBI36 |
| NG_008867.1:g.87569C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4078C>G | ||
| ENST00000526037.6:n.412C>G | ||
| ENST00000528374.2:c.1068C>G | ||
| ENST00000529967.6:n.2816C>G | ||
| ENST00000532220.2:n.3710C>G | ||
| ENST00000642611.2:n.5810C>G | ||
| ENST00000644057.2:n.1053C>G | ||
| ENST00000645004.2:n.1976C>G | ||
| ENST00000682051.1:n.4639C>G | ||
| ENST00000682110.1:n.4692C>G | ||
| ENST00000682140.1:c.*263C>G | ENSP00000507829.1:n.*263C>G | |
| ENST00000682185.1:n.5782C>G | ||
| ENST00000682204.1:c.*2615C>G | ENSP00000507094.1:n.*2615C>G | |
| ENST00000682215.1:n.5059C>G | ||
| ENST00000682288.1:c.*2908C>G | ENSP00000507506.1:n.*2908C>G | |
| ENST00000682442.1:n.4912C>G | ||
| ENST00000682528.1:n.4769C>G | ||
| ENST00000682673.1:n.4636C>G | ||
| ENST00000682805.1:n.5097C>G | ||
| ENST00000682965.1:c.*899C>G | ENSP00000508229.1:n.*899C>G | |
| ENST00000683093.1:n.5672C>G | ||
| ENST00000683136.1:c.4360C>G | ENSP00000507768.1:p.Arg1454Gly | |
| ENST00000683153.1:n.4734C>G | ||
| ENST00000683365.1:n.4794C>G | ||
| ENST00000683377.1:n.4588C>G | ||
| ENST00000683456.1:c.*1614C>G | ENSP00000508318.1:n.*1614C>G | |
| ENST00000683522.1:n.4774C>G | ||
| ENST00000683562.1:c.*2542C>G | ENSP00000508265.1:n.*2542C>G | |
| ENST00000683693.1:n.6153C>G | ||
| ENST00000683725.1:c.4373C>G | ENSP00000507496.1:p.Pro1458Arg | |
| ENST00000684010.1:n.4687C>G | ||
| ENST00000684014.1:n.664C>G | ||
| ENST00000684157.1:n.5677C>G | ||
| ENST00000684253.1:n.4595C>G | ||
| ENST00000684288.1:c.*2649C>G | ENSP00000507143.1:n.*2649C>G | |
| ENST00000684313.1:n.4124C>G | ||
| ENST00000684332.1:n.4765C>G | ||
| ENST00000684371.1:n.4798C>G | ||
| ENST00000684404.1:n.5720C>G | ||
| ENST00000684442.1:n.4916C>G | ||
| ENST00000684555.1:c.*2689C>G | ENSP00000507705.1:n.*2689C>G | |
| ENST00000684571.1:c.4318C>G | ENSP00000506935.1:p.Arg1440Gly | |
| ENST00000684593.1:c.*4182C>G | ENSP00000507005.1:n.*4182C>G | |
| ENST00000684711.1:c.*2873C>G | ENSP00000506841.1:n.*2873C>G | |
| ENST00000302539.9:c.4480C>G | ENSP00000303960.4:p.Arg1494Gly | |
| ENST00000389817.8:c.4477C>G MANE Select | ENSP00000374467.4:p.Arg1493Gly | |
| ENST00000642271.1:c.4474C>G | ENSP00000493749.1:p.Arg1492Gly | |
| ENST00000642579.1:c.2531C>G | ||
| ENST00000642611.1:n.5695C>G | ||
| ENST00000642902.1:c.4259C>G | ||
| ENST00000643260.1:c.4477C>G | ENSP00000494450.1:p.Arg1493Gly | |
| ENST00000643562.1:c.*2599C>G | ENSP00000496124.1:n.*2599C>G | |
| ENST00000643925.1:c.3117C>G | ||
| ENST00000644057.1:n.636C>G | ||
| ENST00000644484.1:c.*3863C>G | ENSP00000493558.1:n.*3863C>G | |
| ENST00000644675.1:c.*2649C>G | ENSP00000494567.1:n.*2649C>G | |
| ENST00000644757.1:c.*3203-1354C>G | ENSP00000495085.1:n.*3203-1354C>G | |
| ENST00000644772.1:c.4543C>G | ENSP00000494321.1:p.Arg1515Gly | |
| ENST00000645004.1:n.2170C>G | ||
| ENST00000645076.1:c.3572C>G | ||
| ENST00000645417.1:c.1665C>G | ||
| ENST00000645744.1:c.*4162C>G | ENSP00000494564.1:n.*4162C>G | |
| ENST00000645760.1:c.4898C>G | ||
| ENST00000645884.1:c.*1760C>G | ENSP00000495516.1:n.*1760C>G | |
| ENST00000646003.1:c.*2499C>G | ENSP00000495259.1:n.*2499C>G | |
| ENST00000646207.1:c.*3314C>G | ENSP00000495025.1:n.*3314C>G | |
| ENST00000646276.1:c.*3881C>G | ENSP00000496070.1:n.*3881C>G | |
| ENST00000646592.1:c.3783C>G | ||
| ENST00000646902.1:c.4444C>G | ENSP00000494101.1:p.Arg1482Gly | |
| ENST00000646993.1:c.*2915C>G | ENSP00000493720.1:n.*2915C>G | |
| ENST00000647013.1:c.4483C>G | ENSP00000496741.1:n.4483C>G | |
| ENST00000647015.1:c.4228C>G | ENSP00000495389.1:p.Arg1410Gly | |
| ENST00000647086.1:c.*4063C>G | ENSP00000493677.1:n.*4063C>G | |
| ENST00000647158.1:c.*2764C>G | ENSP00000495744.1:n.*2764C>G | |
| ENST00000302539.8:c.4480C>G | ENSP00000303960.4:p.Arg1494Gly | |
| ENST00000389817.7:c.4477C>G | ENSP00000374467.3:p.Arg1493Gly | |
| ENST00000525022.1:n.372C>G | ||
| ENST00000526037.5:n.237C>G | ||
| ENST00000526168.5:c.265C>G | ||
| ENST00000531642.5:c.508C>G | ||
| NM_000352.4:c.4477C>G | NP_000343.2:p.Arg1493Gly | |
| NM_001287174.1:c.4480C>G | NP_001274103.1:p.Arg1494Gly | |
| XM_011520331.1:c.4477C>G | XP_011518633.1:p.Arg1493Gly | |
| XM_011520332.1:c.4376C>G | XP_011518634.1:p.Pro1459Arg | |
| XM_011520333.1:c.2977C>G | XP_011518635.1:p.Arg993Gly | |
| XR_930890.1:n.4439C>G | ||
| NM_001351295.1:c.4543C>G | NP_001338224.1:p.Arg1515Gly | |
| NM_001351296.1:c.4477C>G | NP_001338225.1:p.Arg1493Gly | |
| NM_001351297.1:c.4474C>G | NP_001338226.1:p.Arg1492Gly | |
| NR_147094.1:n.4772C>G | ||
| XM_017018197.2:c.4546C>G | XP_016873686.1:p.Arg1516Gly | |
| XM_017018199.1:c.4543C>G | XP_016873688.1:p.Arg1515Gly | |
| XM_017018201.2:c.4442C>G | XP_016873690.1:p.Pro1481Arg | |
| XM_017018202.1:c.3043C>G | XP_016873691.1:p.Arg1015Gly | |
| XM_017018204.1:c.2434C>G | XP_016873693.1:p.Arg812Gly | |
| XM_024448668.1:c.2845C>G | XP_024304436.1:p.Arg949Gly | |
| XR_001747945.2:n.4514C>G | ||
| XR_001747946.2:n.4445C>G | ||
| XR_002957189.1:n.6228C>G | ||
| NM_000352.6:c.4477C>G MANE Select | NP_000343.2:p.Arg1493Gly | |
| NM_001287174.2:c.4480C>G | NP_001274103.1:p.Arg1494Gly | |
| NM_001351295.2:c.4543C>G | NP_001338224.1:p.Arg1515Gly | |
| NM_001351296.2:c.4477C>G | NP_001338225.1:p.Arg1493Gly | |
| NM_001351297.2:c.4474C>G | NP_001338226.1:p.Arg1492Gly | |
| NR_147094.2:n.4772C>G | ||
| NM_001287174.3:c.4480C>G | NP_001274103.1:p.Arg1494Gly |