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.17394287C= , CM000673.2:g.17394287C= | GRCh38 |
| NC_000011.9:g.17415834C= , CM000673.1:g.17415834C= | GRCh37 |
| NC_000011.8:g.17372410C= | NCBI36 |
| NG_008867.1:g.87616G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4125G= | ||
| ENST00000526037.6:n.459G= | ||
| ENST00000528374.2:c.1115G= | ||
| ENST00000529967.6:n.2863G= | ||
| ENST00000532220.2:n.3757G= | ||
| ENST00000642611.2:n.5857G= | ||
| ENST00000644057.2:n.1100G= | ||
| ENST00000645004.2:n.2023G= | ||
| ENST00000682051.1:n.4686G= | ||
| ENST00000682110.1:n.4739G= | ||
| ENST00000682140.1:c.*310G= | ENSP00000507829.1:n.*310G= | |
| ENST00000682185.1:n.5829G= | ||
| ENST00000682204.1:c.*2662G= | ENSP00000507094.1:n.*2662G= | |
| ENST00000682215.1:n.5106G= | ||
| ENST00000682288.1:c.*2955G= | ENSP00000507506.1:n.*2955G= | |
| ENST00000682442.1:n.4959G= | ||
| ENST00000682528.1:n.4816G= | ||
| ENST00000682673.1:n.4683G= | ||
| ENST00000682805.1:n.5144G= | ||
| ENST00000682965.1:c.*946G= | ENSP00000508229.1:n.*946G= | |
| ENST00000683093.1:n.5719G= | ||
| ENST00000683136.1:c.4407G= | ENSP00000507768.1:p.Thr1469= | |
| ENST00000683153.1:n.4781G= | ||
| ENST00000683365.1:n.4841G= | ||
| ENST00000683377.1:n.4635G= | ||
| ENST00000683456.1:c.*1661G= | ENSP00000508318.1:n.*1661G= | |
| ENST00000683522.1:n.4821G= | ||
| ENST00000683562.1:c.*2589G= | ENSP00000508265.1:n.*2589G= | |
| ENST00000683693.1:n.6200G= | ||
| ENST00000683725.1:c.4420G= | ENSP00000507496.1:p.Gly1474= | |
| ENST00000684010.1:n.4734G= | ||
| ENST00000684014.1:n.711G= | ||
| ENST00000684157.1:n.5724G= | ||
| ENST00000684253.1:n.4642G= | ||
| ENST00000684288.1:c.*2696G= | ENSP00000507143.1:n.*2696G= | |
| ENST00000684313.1:n.4171G= | ||
| ENST00000684332.1:n.4812G= | ||
| ENST00000684371.1:n.4845G= | ||
| ENST00000684404.1:n.5767G= | ||
| ENST00000684442.1:n.4963G= | ||
| ENST00000684555.1:c.*2736G= | ENSP00000507705.1:n.*2736G= | |
| ENST00000684571.1:c.4365G= | ENSP00000506935.1:p.Thr1455= | |
| ENST00000684593.1:c.*4229G= | ENSP00000507005.1:n.*4229G= | |
| ENST00000684711.1:c.*2920G= | ENSP00000506841.1:n.*2920G= | |
| ENST00000302539.9:c.4527G= | ENSP00000303960.4:p.Thr1509= | |
| ENST00000389817.8:c.4524G= MANE Select | ENSP00000374467.4:p.Thr1508= | |
| ENST00000642271.1:c.4521G= | ENSP00000493749.1:p.Thr1507= | |
| ENST00000642579.1:c.2578G= | ||
| ENST00000642611.1:n.5742G= | ||
| ENST00000642902.1:c.4306G= | ||
| ENST00000643260.1:c.4524G= | ENSP00000494450.1:p.Thr1508= | |
| ENST00000643562.1:c.*2646G= | ENSP00000496124.1:n.*2646G= | |
| ENST00000643925.1:c.3164G= | ||
| ENST00000644057.1:n.683G= | ||
| ENST00000644484.1:c.*3910G= | ENSP00000493558.1:n.*3910G= | |
| ENST00000644675.1:c.*2696G= | ENSP00000494567.1:n.*2696G= | |
| ENST00000644757.1:c.*3203-1307G= | ENSP00000495085.1:n.*3203-1307G= | |
| ENST00000644772.1:c.4590G= | ENSP00000494321.1:p.Thr1530= | |
| ENST00000645004.1:n.2217G= | ||
| ENST00000645076.1:c.3619G= | ||
| ENST00000645417.1:c.1712G= | ||
| ENST00000645744.1:c.*4209G= | ENSP00000494564.1:n.*4209G= | |
| ENST00000645760.1:c.4945G= | ||
| ENST00000645884.1:c.*1807G= | ENSP00000495516.1:n.*1807G= | |
| ENST00000646003.1:c.*2546G= | ENSP00000495259.1:n.*2546G= | |
| ENST00000646207.1:c.*3361G= | ENSP00000495025.1:n.*3361G= | |
| ENST00000646276.1:c.*3928G= | ENSP00000496070.1:n.*3928G= | |
| ENST00000646592.1:c.3830G= | ||
| ENST00000646902.1:c.4491G= | ENSP00000494101.1:p.Thr1497= | |
| ENST00000646993.1:c.*2962G= | ENSP00000493720.1:n.*2962G= | |
| ENST00000647013.1:c.4530G= | ENSP00000496741.1:n.4530G= | |
| ENST00000647015.1:c.4275G= | ENSP00000495389.1:p.Thr1425= | |
| ENST00000647086.1:c.*4110G= | ENSP00000493677.1:n.*4110G= | |
| ENST00000647158.1:c.*2811G= | ENSP00000495744.1:n.*2811G= | |
| ENST00000302539.8:c.4527G= | ENSP00000303960.4:p.Thr1509= | |
| ENST00000389817.7:c.4524G= | ENSP00000374467.3:p.Thr1508= | |
| ENST00000525022.1:n.419G= | ||
| ENST00000526037.5:n.284G= | ||
| ENST00000526168.5:c.312G= | ||
| ENST00000531642.5:c.555G= | ||
| NM_000352.4:c.4524G= | NP_000343.2:p.Thr1508= | |
| NM_001287174.1:c.4527G= | NP_001274103.1:p.Thr1509= | |
| XM_011520331.1:c.4524G= | XP_011518633.1:p.Thr1508= | |
| XM_011520332.1:c.4423G= | XP_011518634.1:p.Gly1475= | |
| XM_011520333.1:c.3024G= | XP_011518635.1:p.Thr1008= | |
| XR_930890.1:n.4486G= | ||
| NM_001351295.1:c.4590G= | NP_001338224.1:p.Thr1530= | |
| NM_001351296.1:c.4524G= | NP_001338225.1:p.Thr1508= | |
| NM_001351297.1:c.4521G= | NP_001338226.1:p.Thr1507= | |
| NR_147094.1:n.4819G= | ||
| XM_017018197.2:c.4593G= | XP_016873686.1:p.Thr1531= | |
| XM_017018199.1:c.4590G= | XP_016873688.1:p.Thr1530= | |
| XM_017018201.2:c.4489G= | XP_016873690.1:p.Gly1497= | |
| XM_017018202.1:c.3090G= | XP_016873691.1:p.Thr1030= | |
| XM_017018204.1:c.2481G= | XP_016873693.1:p.Thr827= | |
| XM_024448668.1:c.2892G= | XP_024304436.1:p.Thr964= | |
| XR_001747945.2:n.4561G= | ||
| XR_001747946.2:n.4492G= | ||
| XR_002957189.1:n.6275G= | ||
| NM_000352.6:c.4524G= MANE Select | NP_000343.2:p.Thr1508= | |
| NM_001287174.2:c.4527G= | NP_001274103.1:p.Thr1509= | |
| NM_001351295.2:c.4590G= | NP_001338224.1:p.Thr1530= | |
| NM_001351296.2:c.4524G= | NP_001338225.1:p.Thr1508= | |
| NM_001351297.2:c.4521G= | NP_001338226.1:p.Thr1507= | |
| NR_147094.2:n.4819G= | ||
| NM_001287174.3:c.4527G= | NP_001274103.1:p.Thr1509= |