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.17404549A= , CM000673.2:g.17404549A= | GRCh38 |
| NC_000011.9:g.17426096A= , CM000673.1:g.17426096A= | GRCh37 |
| NC_000011.8:g.17382672A= | NCBI36 |
| NG_008867.1:g.77354T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3089T= | ||
| ENST00000528374.2:c.99T= | ||
| ENST00000529967.6:n.1859T= | ||
| ENST00000532220.2:n.1252T= | ||
| ENST00000642611.2:n.3589T= | ||
| ENST00000645004.2:n.1019T= | ||
| ENST00000682051.1:n.3536T= | ||
| ENST00000682110.1:n.3589T= | ||
| ENST00000682140.1:c.3517T= | ENSP00000507829.1:p.Cys1173= | |
| ENST00000682185.1:n.4825T= | ||
| ENST00000682204.1:c.*1658T= | ENSP00000507094.1:n.*1658T= | |
| ENST00000682215.1:n.3586T= | ||
| ENST00000682288.1:c.*1951T= | ENSP00000507506.1:n.*1951T= | |
| ENST00000682442.1:n.3809T= | ||
| ENST00000682528.1:n.3666T= | ||
| ENST00000682673.1:n.3533T= | ||
| ENST00000682805.1:n.3586T= | ||
| ENST00000682965.1:c.3396+945T= | ENSP00000508229.1:n.3396+945T= | |
| ENST00000683093.1:n.3688T= | ||
| ENST00000683136.1:c.3517T= | ENSP00000507768.1:p.Cys1173= | |
| ENST00000683153.1:n.3745T= | ||
| ENST00000683365.1:n.3691T= | ||
| ENST00000683377.1:n.3589T= | ||
| ENST00000683456.1:c.*657T= | ENSP00000508318.1:n.*657T= | |
| ENST00000683522.1:n.3589T= | ||
| ENST00000683562.1:c.*1689T= | ENSP00000508265.1:n.*1689T= | |
| ENST00000683693.1:n.3666T= | ||
| ENST00000683725.1:c.3520T= | ENSP00000507496.1:p.Cys1174= | |
| ENST00000684010.1:n.3584T= | ||
| ENST00000684157.1:n.3589T= | ||
| ENST00000684253.1:n.3492T= | ||
| ENST00000684288.1:c.*1692T= | ENSP00000507143.1:n.*1692T= | |
| ENST00000684313.1:n.3021T= | ||
| ENST00000684332.1:n.3662T= | ||
| ENST00000684371.1:n.3695T= | ||
| ENST00000684404.1:n.3632T= | ||
| ENST00000684442.1:n.3589T= | ||
| ENST00000684555.1:c.*1732T= | ENSP00000507705.1:n.*1732T= | |
| ENST00000684571.1:c.3361T= | ENSP00000506935.1:p.Cys1121= | |
| ENST00000684593.1:c.*3225T= | ENSP00000507005.1:n.*3225T= | |
| ENST00000684711.1:c.*1916T= | ENSP00000506841.1:n.*1916T= | |
| ENST00000302539.9:c.3523T= | ENSP00000303960.4:p.Cys1175= | |
| ENST00000389817.8:c.3520T= MANE Select | ENSP00000374467.4:p.Cys1174= | |
| ENST00000642271.1:c.3517T= | ENSP00000493749.1:p.Cys1173= | |
| ENST00000642579.1:c.1604T= | ||
| ENST00000642611.1:n.3474T= | ||
| ENST00000642902.1:c.3302T= | ||
| ENST00000643260.1:c.3520T= | ENSP00000494450.1:p.Cys1174= | |
| ENST00000643562.1:c.*1496T= | ENSP00000496124.1:n.*1496T= | |
| ENST00000643925.1:c.1644T= | ||
| ENST00000644447.1:c.1876T= | ENSP00000496282.1:p.Cys626= | |
| ENST00000644484.1:c.*1775T= | ENSP00000493558.1:n.*1775T= | |
| ENST00000644675.1:c.*1692T= | ENSP00000494567.1:n.*1692T= | |
| ENST00000644757.1:c.*1805T= | ENSP00000495085.1:n.*1805T= | |
| ENST00000644772.1:c.3586T= | ENSP00000494321.1:p.Cys1196= | |
| ENST00000645004.1:n.659T= | ||
| ENST00000645076.1:c.2719T= | ||
| ENST00000645417.1:c.686T= | ||
| ENST00000645744.1:c.*1784T= | ENSP00000494564.1:n.*1784T= | |
| ENST00000645760.1:c.3795T= | ||
| ENST00000645884.1:c.*657T= | ENSP00000495516.1:n.*657T= | |
| ENST00000646003.1:c.*1476T= | ENSP00000495259.1:n.*1476T= | |
| ENST00000646207.1:c.*1987T= | ENSP00000495025.1:n.*1987T= | |
| ENST00000646276.1:c.*1793T= | ENSP00000496070.1:n.*1793T= | |
| ENST00000646592.1:c.2826T= | ||
| ENST00000646902.1:c.3517T= | ENSP00000494101.1:p.Cys1173= | |
| ENST00000646993.1:c.*1916T= | ENSP00000493720.1:n.*1916T= | |
| ENST00000647013.1:c.3526T= | ENSP00000496741.1:n.3526T= | |
| ENST00000647015.1:c.3271T= | ENSP00000495389.1:p.Cys1091= | |
| ENST00000647086.1:c.*3250T= | ENSP00000493677.1:n.*3250T= | |
| ENST00000647158.1:c.*1661T= | ENSP00000495744.1:n.*1661T= | |
| ENST00000302539.8:c.3523T= | ENSP00000303960.4:p.Cys1175= | |
| ENST00000389817.7:c.3520T= | ENSP00000374467.3:p.Cys1174= | |
| ENST00000524561.1:n.652T= | ||
| ENST00000527905.5:c.*396T= | ENSP00000431653.1:n.*396T= | |
| ENST00000531137.1:n.13T= | ||
| NM_000352.4:c.3520T= | NP_000343.2:p.Cys1174= | |
| NM_001287174.1:c.3523T= | NP_001274103.1:p.Cys1175= | |
| XM_011520331.1:c.3520T= | XP_011518633.1:p.Cys1174= | |
| XM_011520332.1:c.3523T= | XP_011518634.1:p.Cys1175= | |
| XM_011520333.1:c.2020T= | XP_011518635.1:p.Cys674= | |
| XR_930890.1:n.3586T= | ||
| XR_930892.1:n.3486T= | ||
| XR_930893.1:n.3483T= | ||
| NM_001351295.1:c.3586T= | NP_001338224.1:p.Cys1196= | |
| NM_001351296.1:c.3520T= | NP_001338225.1:p.Cys1174= | |
| NM_001351297.1:c.3517T= | NP_001338226.1:p.Cys1173= | |
| NR_147094.1:n.3669T= | ||
| XM_017018197.2:c.3589T= | XP_016873686.1:p.Cys1197= | |
| XM_017018199.1:c.3586T= | XP_016873688.1:p.Cys1196= | |
| XM_017018201.2:c.3589T= | XP_016873690.1:p.Cys1197= | |
| XM_017018202.1:c.2086T= | XP_016873691.1:p.Cys696= | |
| XM_017018204.1:c.1477T= | XP_016873693.1:p.Cys493= | |
| XM_024448668.1:c.1888T= | XP_024304436.1:p.Cys630= | |
| XR_001747945.2:n.3661T= | ||
| XR_001747946.2:n.3592T= | ||
| XR_002957189.1:n.3741T= | ||
| NM_000352.6:c.3520T= MANE Select | NP_000343.2:p.Cys1174= | |
| NM_001287174.2:c.3523T= | NP_001274103.1:p.Cys1175= | |
| NM_001351295.2:c.3586T= | NP_001338224.1:p.Cys1196= | |
| NM_001351296.2:c.3520T= | NP_001338225.1:p.Cys1174= | |
| NM_001351297.2:c.3517T= | NP_001338226.1:p.Cys1173= | |
| NR_147094.2:n.3669T= | ||
| NM_001287174.3:c.3523T= | NP_001274103.1:p.Cys1175= |