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.17395688G= , CM000673.2:g.17395688G= | GRCh38 |
| NC_000011.9:g.17417235G= , CM000673.1:g.17417235G= | GRCh37 |
| NC_000011.8:g.17373811G= | NCBI36 |
| NG_008867.1:g.86215C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3830C= | ||
| ENST00000528374.2:c.820C= | ||
| ENST00000529967.6:n.2568C= | ||
| ENST00000532220.2:n.3462C= | ||
| ENST00000642611.2:n.5562C= | ||
| ENST00000644057.2:n.805C= | ||
| ENST00000645004.2:n.1728C= | ||
| ENST00000682051.1:n.4391C= | ||
| ENST00000682110.1:n.4444C= | ||
| ENST00000682140.1:c.*15C= | ENSP00000507829.1:n.*15C= | |
| ENST00000682185.1:n.5534C= | ||
| ENST00000682204.1:c.*2367C= | ENSP00000507094.1:n.*2367C= | |
| ENST00000682215.1:n.4811C= | ||
| ENST00000682288.1:c.*2660C= | ENSP00000507506.1:n.*2660C= | |
| ENST00000682442.1:n.4664C= | ||
| ENST00000682528.1:n.4521C= | ||
| ENST00000682673.1:n.4388C= | ||
| ENST00000682805.1:n.4849C= | ||
| ENST00000682965.1:c.*651C= | ENSP00000508229.1:n.*651C= | |
| ENST00000683093.1:n.5528C= | ||
| ENST00000683136.1:c.4112C= | ENSP00000507768.1:p.Ala1371= | |
| ENST00000683153.1:n.4486C= | ||
| ENST00000683365.1:n.4546C= | ||
| ENST00000683377.1:n.4444C= | ||
| ENST00000683456.1:c.*1366C= | ENSP00000508318.1:n.*1366C= | |
| ENST00000683522.1:n.4444C= | ||
| ENST00000683562.1:c.*2398C= | ENSP00000508265.1:n.*2398C= | |
| ENST00000683693.1:n.6009C= | ||
| ENST00000683725.1:c.4229C= | ENSP00000507496.1:p.Ala1410= | |
| ENST00000684010.1:n.4439C= | ||
| ENST00000684157.1:n.5429C= | ||
| ENST00000684253.1:n.4347C= | ||
| ENST00000684288.1:c.*2401C= | ENSP00000507143.1:n.*2401C= | |
| ENST00000684313.1:n.3876C= | ||
| ENST00000684332.1:n.4517C= | ||
| ENST00000684371.1:n.4550C= | ||
| ENST00000684404.1:n.5472C= | ||
| ENST00000684442.1:n.4668C= | ||
| ENST00000684555.1:c.*2441C= | ENSP00000507705.1:n.*2441C= | |
| ENST00000684571.1:c.4070C= | ENSP00000506935.1:p.Ala1357= | |
| ENST00000684593.1:c.*3934C= | ENSP00000507005.1:n.*3934C= | |
| ENST00000684711.1:c.*2625C= | ENSP00000506841.1:n.*2625C= | |
| ENST00000302539.9:c.4232C= | ENSP00000303960.4:p.Ala1411= | |
| ENST00000389817.8:c.4229C= MANE Select | ENSP00000374467.4:p.Ala1410= | |
| ENST00000642271.1:c.4226C= | ENSP00000493749.1:p.Ala1409= | |
| ENST00000642579.1:c.2283C= | ||
| ENST00000642611.1:n.5447C= | ||
| ENST00000642902.1:c.4011C= | ||
| ENST00000643260.1:c.4229C= | ENSP00000494450.1:p.Ala1410= | |
| ENST00000643562.1:c.*2351C= | ENSP00000496124.1:n.*2351C= | |
| ENST00000643925.1:c.2869C= | ||
| ENST00000644057.1:n.306C= | ||
| ENST00000644484.1:c.*3615C= | ENSP00000493558.1:n.*3615C= | |
| ENST00000644675.1:c.*2401C= | ENSP00000494567.1:n.*2401C= | |
| ENST00000644757.1:c.*3202+576C= | ENSP00000495085.1:n.*3202+576C= | |
| ENST00000644772.1:c.4295C= | ENSP00000494321.1:p.Ala1432= | |
| ENST00000645004.1:n.1922C= | ||
| ENST00000645076.1:c.3428C= | ||
| ENST00000645417.1:c.1417C= | ||
| ENST00000645744.1:c.*3964-50C= | ENSP00000494564.1:n.*3964-50C= | |
| ENST00000645760.1:c.4650C= | ||
| ENST00000645884.1:c.*1512C= | ENSP00000495516.1:n.*1512C= | |
| ENST00000646003.1:c.*2301-50C= | ENSP00000495259.1:n.*2301-50C= | |
| ENST00000646207.1:c.*3066C= | ENSP00000495025.1:n.*3066C= | |
| ENST00000646276.1:c.*3633C= | ENSP00000496070.1:n.*3633C= | |
| ENST00000646592.1:c.3535C= | ||
| ENST00000646902.1:c.4196C= | ENSP00000494101.1:p.Ala1399= | |
| ENST00000646993.1:c.*2771C= | ENSP00000493720.1:n.*2771C= | |
| ENST00000647013.1:c.4235C= | ENSP00000496741.1:n.4235C= | |
| ENST00000647015.1:c.3980C= | ENSP00000495389.1:p.Ala1327= | |
| ENST00000647086.1:c.*3815C= | ENSP00000493677.1:n.*3815C= | |
| ENST00000647158.1:c.*2516C= | ENSP00000495744.1:n.*2516C= | |
| ENST00000302539.8:c.4232C= | ENSP00000303960.4:p.Ala1411= | |
| ENST00000389817.7:c.4229C= | ENSP00000374467.3:p.Ala1410= | |
| ENST00000525022.1:n.228C= | ||
| ENST00000526037.5:n.93C= | ||
| ENST00000526168.5:c.67-50C= | ||
| ENST00000531642.5:c.65C= | ||
| NM_000352.4:c.4229C= | NP_000343.2:p.Ala1410= | |
| NM_001287174.1:c.4232C= | NP_001274103.1:p.Ala1411= | |
| XM_011520331.1:c.4229C= | XP_011518633.1:p.Ala1410= | |
| XM_011520332.1:c.4232C= | XP_011518634.1:p.Ala1411= | |
| XM_011520333.1:c.2729C= | XP_011518635.1:p.Ala910= | |
| XR_930890.1:n.4295C= | ||
| NM_001351295.1:c.4295C= | NP_001338224.1:p.Ala1432= | |
| NM_001351296.1:c.4229C= | NP_001338225.1:p.Ala1410= | |
| NM_001351297.1:c.4226C= | NP_001338226.1:p.Ala1409= | |
| NR_147094.1:n.4524C= | ||
| XM_017018197.2:c.4298C= | XP_016873686.1:p.Ala1433= | |
| XM_017018199.1:c.4295C= | XP_016873688.1:p.Ala1432= | |
| XM_017018201.2:c.4298C= | XP_016873690.1:p.Ala1433= | |
| XM_017018202.1:c.2795C= | XP_016873691.1:p.Ala932= | |
| XM_017018204.1:c.2186C= | XP_016873693.1:p.Ala729= | |
| XM_024448668.1:c.2597C= | XP_024304436.1:p.Ala866= | |
| XR_001747945.2:n.4370C= | ||
| XR_001747946.2:n.4301C= | ||
| XR_002957189.1:n.6084C= | ||
| NM_000352.6:c.4229C= MANE Select | NP_000343.2:p.Ala1410= | |
| NM_001287174.2:c.4232C= | NP_001274103.1:p.Ala1411= | |
| NM_001351295.2:c.4295C= | NP_001338224.1:p.Ala1432= | |
| NM_001351296.2:c.4229C= | NP_001338225.1:p.Ala1410= | |
| NM_001351297.2:c.4226C= | NP_001338226.1:p.Ala1409= | |
| NR_147094.2:n.4524C= | ||
| NM_001287174.3:c.4232C= | NP_001274103.1:p.Ala1411= |