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.17393198G= , CM000673.2:g.17393198G= | GRCh38 |
| NC_000011.9:g.17414745G= , CM000673.1:g.17414745G= | GRCh37 |
| NC_000011.8:g.17371321G= | NCBI36 |
| NG_008867.1:g.88705C= | |
| NG_012446.1:g.462C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4210-70C= | ||
| ENST00000526037.6:n.544-70C= | ||
| ENST00000528374.2:c.1200-70C= | ||
| ENST00000529967.6:n.2948-70C= | ||
| ENST00000532220.2:n.3842-70C= | ||
| ENST00000642611.2:n.5942-70C= | ||
| ENST00000644057.2:n.1185-70C= | ||
| ENST00000645004.2:n.2108-70C= | ||
| ENST00000682051.1:n.4771-70C= | ||
| ENST00000682110.1:n.4824-70C= | ||
| ENST00000682140.1:c.*395-70C= | ENSP00000507829.1:n.*395-70C= | |
| ENST00000682185.1:n.5914-70C= | ||
| ENST00000682204.1:c.*2747-70C= | ENSP00000507094.1:n.*2747-70C= | |
| ENST00000682215.1:n.5191-70C= | ||
| ENST00000682288.1:c.*3040-70C= | ENSP00000507506.1:n.*3040-70C= | |
| ENST00000682442.1:n.5044-70C= | ||
| ENST00000682528.1:n.4901-70C= | ||
| ENST00000682673.1:n.4768-70C= | ||
| ENST00000682805.1:n.5229-70C= | ||
| ENST00000682965.1:c.*1031-70C= | ENSP00000508229.1:n.*1031-70C= | |
| ENST00000683093.1:n.5804-70C= | ||
| ENST00000683136.1:c.4492-70C= | ENSP00000507768.1:n.4492-70C= | |
| ENST00000683153.1:n.4866-70C= | ||
| ENST00000683365.1:n.4926-70C= | ||
| ENST00000683377.1:n.4720-70C= | ||
| ENST00000683456.1:c.*1746-70C= | ENSP00000508318.1:n.*1746-70C= | |
| ENST00000683522.1:n.4906-70C= | ||
| ENST00000683562.1:c.*2674-70C= | ENSP00000508265.1:n.*2674-70C= | |
| ENST00000683693.1:n.6285-70C= | ||
| ENST00000683725.1:c.*74-70C= | ENSP00000507496.1:n.*74-70C= | |
| ENST00000684010.1:n.4819-70C= | ||
| ENST00000684014.1:n.796-70C= | ||
| ENST00000684157.1:n.5809-70C= | ||
| ENST00000684253.1:n.4727-70C= | ||
| ENST00000684288.1:c.*2781-70C= | ENSP00000507143.1:n.*2781-70C= | |
| ENST00000684313.1:n.4256-70C= | ||
| ENST00000684332.1:n.4897-70C= | ||
| ENST00000684371.1:n.4930-70C= | ||
| ENST00000684404.1:n.5852-70C= | ||
| ENST00000684442.1:n.5048-70C= | ||
| ENST00000684555.1:c.*2821-70C= | ENSP00000507705.1:n.*2821-70C= | |
| ENST00000684571.1:c.4450-70C= | ENSP00000506935.1:n.4450-70C= | |
| ENST00000684593.1:c.*4314-70C= | ENSP00000507005.1:n.*4314-70C= | |
| ENST00000684711.1:c.*3005-70C= | ENSP00000506841.1:n.*3005-70C= | |
| ENST00000302539.9:c.4612-70C= | ENSP00000303960.4:n.4612-70C= | |
| ENST00000389817.8:c.4609-70C= MANE Select | ENSP00000374467.4:n.4609-70C= | |
| ENST00000642271.1:c.4606-70C= | ENSP00000493749.1:n.4606-70C= | |
| ENST00000642579.1:c.2663-70C= | ||
| ENST00000642611.1:n.5827-70C= | ||
| ENST00000642902.1:c.4391-70C= | ||
| ENST00000643260.1:c.4609-70C= | ENSP00000494450.1:n.4609-70C= | |
| ENST00000643562.1:c.*2731-70C= | ENSP00000496124.1:n.*2731-70C= | |
| ENST00000643925.1:c.3186-70C= | ||
| ENST00000644057.1:n.768-70C= | ||
| ENST00000644484.1:c.*3995-70C= | ENSP00000493558.1:n.*3995-70C= | |
| ENST00000644675.1:c.*2781-70C= | ENSP00000494567.1:n.*2781-70C= | |
| ENST00000644757.1:c.*3203-218C= | ENSP00000495085.1:n.*3203-218C= | |
| ENST00000644772.1:c.4675-70C= | ENSP00000494321.1:n.4675-70C= | |
| ENST00000645004.1:n.2302-70C= | ||
| ENST00000645076.1:c.3704-70C= | ||
| ENST00000645417.1:c.1797-70C= | ||
| ENST00000645744.1:c.*4294-70C= | ENSP00000494564.1:n.*4294-70C= | |
| ENST00000645760.1:c.5030-70C= | ||
| ENST00000645884.1:c.*1892-70C= | ENSP00000495516.1:n.*1892-70C= | |
| ENST00000646003.1:c.*2631-70C= | ENSP00000495259.1:n.*2631-70C= | |
| ENST00000646207.1:c.*3446-70C= | ENSP00000495025.1:n.*3446-70C= | |
| ENST00000646276.1:c.*4013-70C= | ENSP00000496070.1:n.*4013-70C= | |
| ENST00000646592.1:c.3915-70C= | ||
| ENST00000646902.1:c.4576-70C= | ENSP00000494101.1:n.4576-70C= | |
| ENST00000646993.1:c.*3047-70C= | ENSP00000493720.1:n.*3047-70C= | |
| ENST00000647015.1:c.4360-70C= | ENSP00000495389.1:n.4360-70C= | |
| ENST00000647086.1:c.*4195-70C= | ENSP00000493677.1:n.*4195-70C= | |
| ENST00000647158.1:c.*2896-70C= | ENSP00000495744.1:n.*2896-70C= | |
| ENST00000302539.8:c.4612-70C= | ENSP00000303960.4:n.4612-70C= | |
| ENST00000389817.7:c.4609-70C= | ENSP00000374467.3:n.4609-70C= | |
| ENST00000525022.1:n.518C= | ||
| ENST00000526037.5:n.369-70C= | ||
| ENST00000526168.5:c.397-70C= | ||
| ENST00000531642.5:c.640-70C= | ||
| NM_000352.4:c.4609-70C= | NP_000343.2:n.4609-70C= | |
| NM_001287174.1:c.4612-70C= | NP_001274103.1:n.4612-70C= | |
| XM_011520331.1:c.4609-70C= | XP_011518633.1:n.4609-70C= | |
| XM_011520333.1:c.3109-70C= | XP_011518635.1:n.3109-70C= | |
| XR_930890.1:n.4571-70C= | ||
| NM_001351295.1:c.4675-70C= | NP_001338224.1:n.4675-70C= | |
| NM_001351296.1:c.4609-70C= | NP_001338225.1:n.4609-70C= | |
| NM_001351297.1:c.4606-70C= | NP_001338226.1:n.4606-70C= | |
| NR_147094.1:n.4904-70C= | ||
| XM_017018197.2:c.4678-70C= | XP_016873686.1:n.4678-70C= | |
| XM_017018199.1:c.4675-70C= | XP_016873688.1:n.4675-70C= | |
| XM_017018202.1:c.3175-70C= | XP_016873691.1:n.3175-70C= | |
| XM_017018204.1:c.2566-70C= | XP_016873693.1:n.2566-70C= | |
| XM_024448668.1:c.2977-70C= | XP_024304436.1:n.2977-70C= | |
| XR_001747945.2:n.4646-70C= | ||
| XR_001747946.2:n.4577-70C= | ||
| XR_002957189.1:n.6360-70C= | ||
| NM_000352.6:c.4609-70C= MANE Select | NP_000343.2:n.4609-70C= | |
| NM_001287174.2:c.4612-70C= | NP_001274103.1:n.4612-70C= | |
| NM_001351295.2:c.4675-70C= | NP_001338224.1:n.4675-70C= | |
| NM_001351296.2:c.4609-70C= | NP_001338225.1:n.4609-70C= | |
| NM_001351297.2:c.4606-70C= | NP_001338226.1:n.4606-70C= | |
| NR_147094.2:n.4904-70C= | ||
| NM_001287174.3:c.4612-70C= | NP_001274103.1:n.4612-70C= |