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.17406727A= , CM000673.2:g.17406727A= | GRCh38 |
| NC_000011.9:g.17428274A= , CM000673.1:g.17428274A= | GRCh37 |
| NC_000011.8:g.17384850A= | NCBI36 |
| NG_008867.1:g.75176T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2793T= | ||
| ENST00000529967.6:n.1563T= | ||
| ENST00000532220.2:n.956T= | ||
| ENST00000642611.2:n.3293T= | ||
| ENST00000645004.2:n.723T= | ||
| ENST00000682051.1:n.3240T= | ||
| ENST00000682110.1:n.3293T= | ||
| ENST00000682140.1:c.3221T= | ENSP00000507829.1:p.Ile1074= | |
| ENST00000682185.1:n.4529T= | ||
| ENST00000682204.1:c.*1362T= | ENSP00000507094.1:n.*1362T= | |
| ENST00000682215.1:n.3290T= | ||
| ENST00000682288.1:c.*1655T= | ENSP00000507506.1:n.*1655T= | |
| ENST00000682442.1:n.3513T= | ||
| ENST00000682528.1:n.3370T= | ||
| ENST00000682673.1:n.3237T= | ||
| ENST00000682805.1:n.3290T= | ||
| ENST00000682965.1:c.3221T= | ENSP00000508229.1:p.Ile1074= | |
| ENST00000683093.1:n.3392T= | ||
| ENST00000683136.1:c.3221T= | ENSP00000507768.1:p.Ile1074= | |
| ENST00000683153.1:n.3449T= | ||
| ENST00000683365.1:n.3395T= | ||
| ENST00000683377.1:n.3293T= | ||
| ENST00000683456.1:c.*361T= | ENSP00000508318.1:n.*361T= | |
| ENST00000683522.1:n.3293T= | ||
| ENST00000683562.1:c.*1393T= | ENSP00000508265.1:n.*1393T= | |
| ENST00000683693.1:n.3370T= | ||
| ENST00000683725.1:c.3224T= | ENSP00000507496.1:p.Ile1075= | |
| ENST00000684010.1:n.3288T= | ||
| ENST00000684157.1:n.3293T= | ||
| ENST00000684253.1:n.3196T= | ||
| ENST00000684288.1:c.*1396T= | ENSP00000507143.1:n.*1396T= | |
| ENST00000684313.1:n.2725T= | ||
| ENST00000684332.1:n.3366T= | ||
| ENST00000684371.1:n.3399T= | ||
| ENST00000684404.1:n.3336T= | ||
| ENST00000684442.1:n.3293T= | ||
| ENST00000684555.1:c.*1436T= | ENSP00000507705.1:n.*1436T= | |
| ENST00000684571.1:c.3065T= | ENSP00000506935.1:p.Ile1022= | |
| ENST00000684593.1:c.*2929T= | ENSP00000507005.1:n.*2929T= | |
| ENST00000684711.1:c.*1620T= | ENSP00000506841.1:n.*1620T= | |
| ENST00000302539.9:c.3227T= | ENSP00000303960.4:p.Ile1076= | |
| ENST00000389817.8:c.3224T= MANE Select | ENSP00000374467.4:p.Ile1075= | |
| ENST00000642271.1:c.3221T= | ENSP00000493749.1:p.Ile1074= | |
| ENST00000642579.1:c.1308T= | ||
| ENST00000642611.1:n.3178T= | ||
| ENST00000642902.1:c.3006T= | ||
| ENST00000643260.1:c.3224T= | ENSP00000494450.1:p.Ile1075= | |
| ENST00000643562.1:c.*1200T= | ENSP00000496124.1:n.*1200T= | |
| ENST00000643925.1:c.1348T= | ||
| ENST00000644447.1:c.1580T= | ENSP00000496282.1:p.Ile527= | |
| ENST00000644484.1:c.*1479T= | ENSP00000493558.1:n.*1479T= | |
| ENST00000644542.1:c.*3028T= | ENSP00000495532.1:n.*3028T= | |
| ENST00000644675.1:c.*1396T= | ENSP00000494567.1:n.*1396T= | |
| ENST00000644757.1:c.*1509T= | ENSP00000495085.1:n.*1509T= | |
| ENST00000644772.1:c.3290T= | ENSP00000494321.1:p.Ile1097= | |
| ENST00000645004.1:n.363T= | ||
| ENST00000645076.1:c.2423T= | ||
| ENST00000645417.1:c.390T= | ||
| ENST00000645744.1:c.*1488T= | ENSP00000494564.1:n.*1488T= | |
| ENST00000645760.1:c.3499T= | ||
| ENST00000645884.1:c.*361T= | ENSP00000495516.1:n.*361T= | |
| ENST00000646003.1:c.*1180T= | ENSP00000495259.1:n.*1180T= | |
| ENST00000646207.1:c.*1691T= | ENSP00000495025.1:n.*1691T= | |
| ENST00000646276.1:c.*1497T= | ENSP00000496070.1:n.*1497T= | |
| ENST00000646592.1:c.2530T= | ||
| ENST00000646902.1:c.3221T= | ENSP00000494101.1:p.Ile1074= | |
| ENST00000646993.1:c.*1620T= | ENSP00000493720.1:n.*1620T= | |
| ENST00000647013.1:c.3230T= | ENSP00000496741.1:n.3230T= | |
| ENST00000647015.1:c.2975T= | ENSP00000495389.1:p.Ile992= | |
| ENST00000647086.1:c.*2954T= | ENSP00000493677.1:n.*2954T= | |
| ENST00000647158.1:c.*1365T= | ENSP00000495744.1:n.*1365T= | |
| ENST00000302539.8:c.3227T= | ENSP00000303960.4:p.Ile1076= | |
| ENST00000389817.7:c.3224T= | ENSP00000374467.3:p.Ile1075= | |
| ENST00000524561.1:n.356T= | ||
| ENST00000526921.5:n.908T= | ||
| ENST00000527905.5:c.*100T= | ENSP00000431653.1:n.*100T= | |
| NM_000352.4:c.3224T= | NP_000343.2:p.Ile1075= | |
| NM_001287174.1:c.3227T= | NP_001274103.1:p.Ile1076= | |
| XM_011520331.1:c.3224T= | XP_011518633.1:p.Ile1075= | |
| XM_011520332.1:c.3227T= | XP_011518634.1:p.Ile1076= | |
| XM_011520333.1:c.1724T= | XP_011518635.1:p.Ile575= | |
| XR_930890.1:n.3290T= | ||
| XR_930891.1:n.3290T= | ||
| XR_930892.1:n.3190T= | ||
| XR_930893.1:n.3187T= | ||
| NM_001351295.1:c.3290T= | NP_001338224.1:p.Ile1097= | |
| NM_001351296.1:c.3224T= | NP_001338225.1:p.Ile1075= | |
| NM_001351297.1:c.3221T= | NP_001338226.1:p.Ile1074= | |
| NR_147094.1:n.3373T= | ||
| XM_017018197.2:c.3293T= | XP_016873686.1:p.Ile1098= | |
| XM_017018199.1:c.3290T= | XP_016873688.1:p.Ile1097= | |
| XM_017018201.2:c.3293T= | XP_016873690.1:p.Ile1098= | |
| XM_017018202.1:c.1790T= | XP_016873691.1:p.Ile597= | |
| XM_017018204.1:c.1181T= | XP_016873693.1:p.Ile394= | |
| XM_024448668.1:c.1592T= | XP_024304436.1:p.Ile531= | |
| XR_001747945.2:n.3365T= | ||
| XR_001747946.2:n.3296T= | ||
| XR_002957189.1:n.3445T= | ||
| NM_000352.6:c.3224T= MANE Select | NP_000343.2:p.Ile1075= | |
| NM_001287174.2:c.3227T= | NP_001274103.1:p.Ile1076= | |
| NM_001351295.2:c.3290T= | NP_001338224.1:p.Ile1097= | |
| NM_001351296.2:c.3224T= | NP_001338225.1:p.Ile1075= | |
| NM_001351297.2:c.3221T= | NP_001338226.1:p.Ile1074= | |
| NR_147094.2:n.3373T= | ||
| NM_001287174.3:c.3227T= | NP_001274103.1:p.Ile1076= |