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.17395665G= , CM000673.2:g.17395665G= | GRCh38 |
| NC_000011.9:g.17417212G= , CM000673.1:g.17417212G= | GRCh37 |
| NC_000011.8:g.17373788G= | NCBI36 |
| NG_008867.1:g.86238C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3853C= | ||
| ENST00000528374.2:c.843C= | ||
| ENST00000529967.6:n.2591C= | ||
| ENST00000532220.2:n.3485C= | ||
| ENST00000642611.2:n.5585C= | ||
| ENST00000644057.2:n.828C= | ||
| ENST00000645004.2:n.1751C= | ||
| ENST00000682051.1:n.4414C= | ||
| ENST00000682110.1:n.4467C= | ||
| ENST00000682140.1:c.*38C= | ENSP00000507829.1:n.*38C= | |
| ENST00000682185.1:n.5557C= | ||
| ENST00000682204.1:c.*2390C= | ENSP00000507094.1:n.*2390C= | |
| ENST00000682215.1:n.4834C= | ||
| ENST00000682288.1:c.*2683C= | ENSP00000507506.1:n.*2683C= | |
| ENST00000682442.1:n.4687C= | ||
| ENST00000682528.1:n.4544C= | ||
| ENST00000682673.1:n.4411C= | ||
| ENST00000682805.1:n.4872C= | ||
| ENST00000682965.1:c.*674C= | ENSP00000508229.1:n.*674C= | |
| ENST00000683093.1:n.5551C= | ||
| ENST00000683136.1:c.4135C= | ENSP00000507768.1:p.Arg1379= | |
| ENST00000683153.1:n.4509C= | ||
| ENST00000683365.1:n.4569C= | ||
| ENST00000683377.1:n.4467C= | ||
| ENST00000683456.1:c.*1389C= | ENSP00000508318.1:n.*1389C= | |
| ENST00000683522.1:n.4467C= | ||
| ENST00000683562.1:c.*2421C= | ENSP00000508265.1:n.*2421C= | |
| ENST00000683693.1:n.6032C= | ||
| ENST00000683725.1:c.4252C= | ENSP00000507496.1:p.Arg1418= | |
| ENST00000684010.1:n.4462C= | ||
| ENST00000684157.1:n.5452C= | ||
| ENST00000684253.1:n.4370C= | ||
| ENST00000684288.1:c.*2424C= | ENSP00000507143.1:n.*2424C= | |
| ENST00000684313.1:n.3899C= | ||
| ENST00000684332.1:n.4540C= | ||
| ENST00000684371.1:n.4573C= | ||
| ENST00000684404.1:n.5495C= | ||
| ENST00000684442.1:n.4691C= | ||
| ENST00000684555.1:c.*2464C= | ENSP00000507705.1:n.*2464C= | |
| ENST00000684571.1:c.4093C= | ENSP00000506935.1:p.Arg1365= | |
| ENST00000684593.1:c.*3957C= | ENSP00000507005.1:n.*3957C= | |
| ENST00000684711.1:c.*2648C= | ENSP00000506841.1:n.*2648C= | |
| ENST00000302539.9:c.4255C= | ENSP00000303960.4:p.Arg1419= | |
| ENST00000389817.8:c.4252C= MANE Select | ENSP00000374467.4:p.Arg1418= | |
| ENST00000642271.1:c.4249C= | ENSP00000493749.1:p.Arg1417= | |
| ENST00000642579.1:c.2306C= | ||
| ENST00000642611.1:n.5470C= | ||
| ENST00000642902.1:c.4034C= | ||
| ENST00000643260.1:c.4252C= | ENSP00000494450.1:p.Arg1418= | |
| ENST00000643562.1:c.*2374C= | ENSP00000496124.1:n.*2374C= | |
| ENST00000643925.1:c.2892C= | ||
| ENST00000644057.1:n.329C= | ||
| ENST00000644484.1:c.*3638C= | ENSP00000493558.1:n.*3638C= | |
| ENST00000644675.1:c.*2424C= | ENSP00000494567.1:n.*2424C= | |
| ENST00000644757.1:c.*3202+599C= | ENSP00000495085.1:n.*3202+599C= | |
| ENST00000644772.1:c.4318C= | ENSP00000494321.1:p.Arg1440= | |
| ENST00000645004.1:n.1945C= | ||
| ENST00000645076.1:c.3451C= | ||
| ENST00000645417.1:c.1440C= | ||
| ENST00000645744.1:c.*3964-27C= | ENSP00000494564.1:n.*3964-27C= | |
| ENST00000645760.1:c.4673C= | ||
| ENST00000645884.1:c.*1535C= | ENSP00000495516.1:n.*1535C= | |
| ENST00000646003.1:c.*2301-27C= | ENSP00000495259.1:n.*2301-27C= | |
| ENST00000646207.1:c.*3089C= | ENSP00000495025.1:n.*3089C= | |
| ENST00000646276.1:c.*3656C= | ENSP00000496070.1:n.*3656C= | |
| ENST00000646592.1:c.3558C= | ||
| ENST00000646902.1:c.4219C= | ENSP00000494101.1:p.Arg1407= | |
| ENST00000646993.1:c.*2794C= | ENSP00000493720.1:n.*2794C= | |
| ENST00000647013.1:c.4258C= | ENSP00000496741.1:n.4258C= | |
| ENST00000647015.1:c.4003C= | ENSP00000495389.1:p.Arg1335= | |
| ENST00000647086.1:c.*3838C= | ENSP00000493677.1:n.*3838C= | |
| ENST00000647158.1:c.*2539C= | ENSP00000495744.1:n.*2539C= | |
| ENST00000302539.8:c.4255C= | ENSP00000303960.4:p.Arg1419= | |
| ENST00000389817.7:c.4252C= | ENSP00000374467.3:p.Arg1418= | |
| ENST00000525022.1:n.251C= | ||
| ENST00000526037.5:n.116C= | ||
| ENST00000526168.5:c.67-27C= | ||
| ENST00000531642.5:c.88C= | ||
| NM_000352.4:c.4252C= | NP_000343.2:p.Arg1418= | |
| NM_001287174.1:c.4255C= | NP_001274103.1:p.Arg1419= | |
| XM_011520331.1:c.4252C= | XP_011518633.1:p.Arg1418= | |
| XM_011520332.1:c.4255C= | XP_011518634.1:p.Arg1419= | |
| XM_011520333.1:c.2752C= | XP_011518635.1:p.Arg918= | |
| XR_930890.1:n.4318C= | ||
| NM_001351295.1:c.4318C= | NP_001338224.1:p.Arg1440= | |
| NM_001351296.1:c.4252C= | NP_001338225.1:p.Arg1418= | |
| NM_001351297.1:c.4249C= | NP_001338226.1:p.Arg1417= | |
| NR_147094.1:n.4547C= | ||
| XM_017018197.2:c.4321C= | XP_016873686.1:p.Arg1441= | |
| XM_017018199.1:c.4318C= | XP_016873688.1:p.Arg1440= | |
| XM_017018201.2:c.4321C= | XP_016873690.1:p.Arg1441= | |
| XM_017018202.1:c.2818C= | XP_016873691.1:p.Arg940= | |
| XM_017018204.1:c.2209C= | XP_016873693.1:p.Arg737= | |
| XM_024448668.1:c.2620C= | XP_024304436.1:p.Arg874= | |
| XR_001747945.2:n.4393C= | ||
| XR_001747946.2:n.4324C= | ||
| XR_002957189.1:n.6107C= | ||
| NM_000352.6:c.4252C= MANE Select | NP_000343.2:p.Arg1418= | |
| NM_001287174.2:c.4255C= | NP_001274103.1:p.Arg1419= | |
| NM_001351295.2:c.4318C= | NP_001338224.1:p.Arg1440= | |
| NM_001351296.2:c.4252C= | NP_001338225.1:p.Arg1418= | |
| NM_001351297.2:c.4249C= | NP_001338226.1:p.Arg1417= | |
| NR_147094.2:n.4547C= | ||
| NM_001287174.3:c.4255C= | NP_001274103.1:p.Arg1419= |