SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17428364A>T , CM000673.2:g.17428364A>T | GRCh38 |
| NC_000011.9:g.17449911A>T , CM000673.1:g.17449911A>T | GRCh37 |
| NC_000011.8:g.17406487A>T | NCBI36 |
| NG_008867.1:g.53539T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1634T>A | ||
| ENST00000529967.6:n.224T>A | ||
| ENST00000642611.2:n.2031T>A | ||
| ENST00000682051.1:n.1978T>A | ||
| ENST00000682110.1:n.2031T>A | ||
| ENST00000682140.1:c.1962T>A | ENSP00000507829.1:p.Asp654Glu | |
| ENST00000682185.1:n.3270T>A | ||
| ENST00000682204.1:c.*103T>A | ENSP00000507094.1:n.*103T>A | |
| ENST00000682215.1:n.2031T>A | ||
| ENST00000682288.1:c.*393T>A | ENSP00000507506.1:n.*393T>A | |
| ENST00000682442.1:n.2152T>A | ||
| ENST00000682528.1:n.2031T>A | ||
| ENST00000682673.1:n.1978T>A | ||
| ENST00000682805.1:n.2031T>A | ||
| ENST00000682965.1:c.1962T>A | ENSP00000508229.1:p.Asp654Glu | |
| ENST00000683093.1:n.2133T>A | ||
| ENST00000683136.1:c.1962T>A | ENSP00000507768.1:p.Asp654Glu | |
| ENST00000683153.1:n.2190T>A | ||
| ENST00000683253.1:n.3047T>A | ||
| ENST00000683365.1:n.2133T>A | ||
| ENST00000683377.1:n.2031T>A | ||
| ENST00000683456.1:c.1962T>A | ENSP00000508318.1:p.Asp654Glu | |
| ENST00000683522.1:n.2031T>A | ||
| ENST00000683562.1:c.*134T>A | ENSP00000508265.1:n.*134T>A | |
| ENST00000683693.1:n.2031T>A | ||
| ENST00000683725.1:c.1965T>A | ENSP00000507496.1:p.Asp655Glu | |
| ENST00000684010.1:n.2031T>A | ||
| ENST00000684157.1:n.2031T>A | ||
| ENST00000684253.1:n.1937T>A | ||
| ENST00000684288.1:c.*134T>A | ENSP00000507143.1:n.*134T>A | |
| ENST00000684313.1:n.1724-11402T>A | ||
| ENST00000684332.1:n.2104T>A | ||
| ENST00000684371.1:n.2137T>A | ||
| ENST00000684404.1:n.2031T>A | ||
| ENST00000684442.1:n.2031T>A | ||
| ENST00000684555.1:c.*174T>A | ENSP00000507705.1:n.*174T>A | |
| ENST00000684571.1:c.1806T>A | ENSP00000506935.1:p.Asp602Glu | |
| ENST00000684593.1:c.*1670T>A | ENSP00000507005.1:n.*1670T>A | |
| ENST00000684711.1:c.*361T>A | ENSP00000506841.1:n.*361T>A | |
| ENST00000302539.9:c.1965T>A | ENSP00000303960.4:p.Asp655Glu | |
| ENST00000389817.8:c.1965T>A MANE Select | ENSP00000374467.4:p.Asp655Glu | |
| ENST00000532728.6:c.1546T>A | ||
| ENST00000642271.1:c.1962T>A | ENSP00000493749.1:p.Asp654Glu | |
| ENST00000642579.1:c.46T>A | ||
| ENST00000642611.1:n.1916T>A | ||
| ENST00000642902.1:c.1800T>A | ||
| ENST00000643260.1:c.1962T>A | ENSP00000494450.1:p.Asp654Glu | |
| ENST00000643562.1:c.1957T>A | ENSP00000496124.1:p.Leu653Met | |
| ENST00000644447.1:c.318T>A | ENSP00000496282.1:p.Asp106Glu | |
| ENST00000644472.1:c.*326T>A | ENSP00000495378.1:n.*326T>A | |
| ENST00000644484.1:c.*174T>A | ENSP00000493558.1:n.*174T>A | |
| ENST00000644542.1:c.*1667T>A | ENSP00000495532.1:n.*1667T>A | |
| ENST00000644649.1:c.1135T>A | ||
| ENST00000644675.1:c.*134T>A | ENSP00000494567.1:n.*134T>A | |
| ENST00000644757.1:c.*267T>A | ENSP00000495085.1:n.*267T>A | |
| ENST00000644772.1:c.2031T>A | ENSP00000494321.1:p.Asp677Glu | |
| ENST00000645076.1:c.1217T>A | ||
| ENST00000645744.1:c.*326T>A | ENSP00000494564.1:n.*326T>A | |
| ENST00000645760.1:c.2240T>A | ||
| ENST00000645884.1:c.1962T>A | ENSP00000495516.1:p.Asp654Glu | |
| ENST00000646003.1:c.*103T>A | ENSP00000495259.1:n.*103T>A | |
| ENST00000646207.1:c.*326T>A | ENSP00000495025.1:n.*326T>A | |
| ENST00000646276.1:c.*235T>A | ENSP00000496070.1:n.*235T>A | |
| ENST00000646592.1:c.1188T>A | ||
| ENST00000646902.1:c.1962T>A | ENSP00000494101.1:p.Asp654Glu | |
| ENST00000646993.1:c.*361T>A | ENSP00000493720.1:n.*361T>A | |
| ENST00000647013.1:c.1968T>A | ENSP00000496741.1:n.1968T>A | |
| ENST00000647015.1:c.1713T>A | ENSP00000495389.1:p.Asp571Glu | |
| ENST00000647086.1:c.*1692T>A | ENSP00000493677.1:n.*1692T>A | |
| ENST00000647158.1:c.*103T>A | ENSP00000495744.1:n.*103T>A | |
| ENST00000302539.8:c.1965T>A | ENSP00000303960.4:p.Asp655Glu | |
| ENST00000389817.7:c.1965T>A | ENSP00000374467.3:p.Asp655Glu | |
| ENST00000527905.5:c.1935T>A | ENSP00000431653.1:p.Asp645Glu | |
| NM_000352.4:c.1965T>A | NP_000343.2:p.Asp655Glu | |
| NM_001287174.1:c.1965T>A | NP_001274103.1:p.Asp655Glu | |
| XM_011520331.1:c.1962T>A | XP_011518633.1:p.Asp654Glu | |
| XM_011520332.1:c.1965T>A | XP_011518634.1:p.Asp655Glu | |
| XM_011520333.1:c.462T>A | XP_011518635.1:p.Asp154Glu | |
| XM_011520334.1:c.1965T>A | XP_011518636.1:p.Asp655Glu | |
| XR_930890.1:n.2028T>A | ||
| XR_930891.1:n.2028T>A | ||
| XR_930892.1:n.2028T>A | ||
| XR_930893.1:n.2028T>A | ||
| NM_001351295.1:c.2031T>A | NP_001338224.1:p.Asp677Glu | |
| NM_001351296.1:c.1962T>A | NP_001338225.1:p.Asp654Glu | |
| NM_001351297.1:c.1962T>A | NP_001338226.1:p.Asp654Glu | |
| NR_147094.1:n.2031T>A | ||
| XM_017018197.2:c.2031T>A | XP_016873686.1:p.Asp677Glu | |
| XM_017018199.1:c.2028T>A | XP_016873688.1:p.Asp676Glu | |
| XM_017018201.2:c.2031T>A | XP_016873690.1:p.Asp677Glu | |
| XM_017018202.1:c.528T>A | XP_016873691.1:p.Asp176Glu | |
| XM_017018204.1:c.-79T>A | XP_016873693.1:n.-79T>A | |
| XM_024448668.1:c.330T>A | XP_024304436.1:p.Asp110Glu | |
| XR_001747945.2:n.2103T>A | ||
| XR_001747946.2:n.2037T>A | ||
| XR_002957189.1:n.2103T>A | ||
| NM_000352.6:c.1965T>A MANE Select | NP_000343.2:p.Asp655Glu | |
| NM_001287174.2:c.1965T>A | NP_001274103.1:p.Asp655Glu | |
| NM_001351295.2:c.2031T>A | NP_001338224.1:p.Asp677Glu | |
| NM_001351296.2:c.1962T>A | NP_001338225.1:p.Asp654Glu | |
| NM_001351297.2:c.1962T>A | NP_001338226.1:p.Asp654Glu | |
| NR_147094.2:n.2031T>A | ||
| NM_001287174.3:c.1965T>A | NP_001274103.1:p.Asp655Glu |