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.17395689C= , CM000673.2:g.17395689C= | GRCh38 |
| NC_000011.9:g.17417236C= , CM000673.1:g.17417236C= | GRCh37 |
| NC_000011.8:g.17373812C= | NCBI36 |
| NG_008867.1:g.86214G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3829G= | ||
| ENST00000528374.2:c.819G= | ||
| ENST00000529967.6:n.2567G= | ||
| ENST00000532220.2:n.3461G= | ||
| ENST00000642611.2:n.5561G= | ||
| ENST00000644057.2:n.804G= | ||
| ENST00000645004.2:n.1727G= | ||
| ENST00000682051.1:n.4390G= | ||
| ENST00000682110.1:n.4443G= | ||
| ENST00000682140.1:c.*14G= | ENSP00000507829.1:n.*14G= | |
| ENST00000682185.1:n.5533G= | ||
| ENST00000682204.1:c.*2366G= | ENSP00000507094.1:n.*2366G= | |
| ENST00000682215.1:n.4810G= | ||
| ENST00000682288.1:c.*2659G= | ENSP00000507506.1:n.*2659G= | |
| ENST00000682442.1:n.4663G= | ||
| ENST00000682528.1:n.4520G= | ||
| ENST00000682673.1:n.4387G= | ||
| ENST00000682805.1:n.4848G= | ||
| ENST00000682965.1:c.*650G= | ENSP00000508229.1:n.*650G= | |
| ENST00000683093.1:n.5527G= | ||
| ENST00000683136.1:c.4111G= | ENSP00000507768.1:p.Ala1371= | |
| ENST00000683153.1:n.4485G= | ||
| ENST00000683365.1:n.4545G= | ||
| ENST00000683377.1:n.4443G= | ||
| ENST00000683456.1:c.*1365G= | ENSP00000508318.1:n.*1365G= | |
| ENST00000683522.1:n.4443G= | ||
| ENST00000683562.1:c.*2397G= | ENSP00000508265.1:n.*2397G= | |
| ENST00000683693.1:n.6008G= | ||
| ENST00000683725.1:c.4228G= | ENSP00000507496.1:p.Ala1410= | |
| ENST00000684010.1:n.4438G= | ||
| ENST00000684157.1:n.5428G= | ||
| ENST00000684253.1:n.4346G= | ||
| ENST00000684288.1:c.*2400G= | ENSP00000507143.1:n.*2400G= | |
| ENST00000684313.1:n.3875G= | ||
| ENST00000684332.1:n.4516G= | ||
| ENST00000684371.1:n.4549G= | ||
| ENST00000684404.1:n.5471G= | ||
| ENST00000684442.1:n.4667G= | ||
| ENST00000684555.1:c.*2440G= | ENSP00000507705.1:n.*2440G= | |
| ENST00000684571.1:c.4069G= | ENSP00000506935.1:p.Ala1357= | |
| ENST00000684593.1:c.*3933G= | ENSP00000507005.1:n.*3933G= | |
| ENST00000684711.1:c.*2624G= | ENSP00000506841.1:n.*2624G= | |
| ENST00000302539.9:c.4231G= | ENSP00000303960.4:p.Ala1411= | |
| ENST00000389817.8:c.4228G= MANE Select | ENSP00000374467.4:p.Ala1410= | |
| ENST00000642271.1:c.4225G= | ENSP00000493749.1:p.Ala1409= | |
| ENST00000642579.1:c.2282G= | ||
| ENST00000642611.1:n.5446G= | ||
| ENST00000642902.1:c.4010G= | ||
| ENST00000643260.1:c.4228G= | ENSP00000494450.1:p.Ala1410= | |
| ENST00000643562.1:c.*2350G= | ENSP00000496124.1:n.*2350G= | |
| ENST00000643925.1:c.2868G= | ||
| ENST00000644057.1:n.305G= | ||
| ENST00000644484.1:c.*3614G= | ENSP00000493558.1:n.*3614G= | |
| ENST00000644675.1:c.*2400G= | ENSP00000494567.1:n.*2400G= | |
| ENST00000644757.1:c.*3202+575G= | ENSP00000495085.1:n.*3202+575G= | |
| ENST00000644772.1:c.4294G= | ENSP00000494321.1:p.Ala1432= | |
| ENST00000645004.1:n.1921G= | ||
| ENST00000645076.1:c.3427G= | ||
| ENST00000645417.1:c.1416G= | ||
| ENST00000645744.1:c.*3964-51G= | ENSP00000494564.1:n.*3964-51G= | |
| ENST00000645760.1:c.4649G= | ||
| ENST00000645884.1:c.*1511G= | ENSP00000495516.1:n.*1511G= | |
| ENST00000646003.1:c.*2301-51G= | ENSP00000495259.1:n.*2301-51G= | |
| ENST00000646207.1:c.*3065G= | ENSP00000495025.1:n.*3065G= | |
| ENST00000646276.1:c.*3632G= | ENSP00000496070.1:n.*3632G= | |
| ENST00000646592.1:c.3534G= | ||
| ENST00000646902.1:c.4195G= | ENSP00000494101.1:p.Ala1399= | |
| ENST00000646993.1:c.*2770G= | ENSP00000493720.1:n.*2770G= | |
| ENST00000647013.1:c.4234G= | ENSP00000496741.1:n.4234G= | |
| ENST00000647015.1:c.3979G= | ENSP00000495389.1:p.Ala1327= | |
| ENST00000647086.1:c.*3814G= | ENSP00000493677.1:n.*3814G= | |
| ENST00000647158.1:c.*2515G= | ENSP00000495744.1:n.*2515G= | |
| ENST00000302539.8:c.4231G= | ENSP00000303960.4:p.Ala1411= | |
| ENST00000389817.7:c.4228G= | ENSP00000374467.3:p.Ala1410= | |
| ENST00000525022.1:n.227G= | ||
| ENST00000526037.5:n.92G= | ||
| ENST00000526168.5:c.67-51G= | ||
| ENST00000531642.5:c.64G= | ||
| NM_000352.4:c.4228G= | NP_000343.2:p.Ala1410= | |
| NM_001287174.1:c.4231G= | NP_001274103.1:p.Ala1411= | |
| XM_011520331.1:c.4228G= | XP_011518633.1:p.Ala1410= | |
| XM_011520332.1:c.4231G= | XP_011518634.1:p.Ala1411= | |
| XM_011520333.1:c.2728G= | XP_011518635.1:p.Ala910= | |
| XR_930890.1:n.4294G= | ||
| NM_001351295.1:c.4294G= | NP_001338224.1:p.Ala1432= | |
| NM_001351296.1:c.4228G= | NP_001338225.1:p.Ala1410= | |
| NM_001351297.1:c.4225G= | NP_001338226.1:p.Ala1409= | |
| NR_147094.1:n.4523G= | ||
| XM_017018197.2:c.4297G= | XP_016873686.1:p.Ala1433= | |
| XM_017018199.1:c.4294G= | XP_016873688.1:p.Ala1432= | |
| XM_017018201.2:c.4297G= | XP_016873690.1:p.Ala1433= | |
| XM_017018202.1:c.2794G= | XP_016873691.1:p.Ala932= | |
| XM_017018204.1:c.2185G= | XP_016873693.1:p.Ala729= | |
| XM_024448668.1:c.2596G= | XP_024304436.1:p.Ala866= | |
| XR_001747945.2:n.4369G= | ||
| XR_001747946.2:n.4300G= | ||
| XR_002957189.1:n.6083G= | ||
| NM_000352.6:c.4228G= MANE Select | NP_000343.2:p.Ala1410= | |
| NM_001287174.2:c.4231G= | NP_001274103.1:p.Ala1411= | |
| NM_001351295.2:c.4294G= | NP_001338224.1:p.Ala1432= | |
| NM_001351296.2:c.4228G= | NP_001338225.1:p.Ala1410= | |
| NM_001351297.2:c.4225G= | NP_001338226.1:p.Ala1409= | |
| NR_147094.2:n.4523G= | ||
| NM_001287174.3:c.4231G= | NP_001274103.1:p.Ala1411= |