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.17394314G>T , CM000673.2:g.17394314G>T | GRCh38 |
| NC_000011.9:g.17415861G>T , CM000673.1:g.17415861G>T | GRCh37 |
| NC_000011.8:g.17372437G>T | NCBI36 |
| NG_008867.1:g.87589C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4098C>A | ||
| ENST00000526037.6:n.432C>A | ||
| ENST00000528374.2:c.1088C>A | ||
| ENST00000529967.6:n.2836C>A | ||
| ENST00000532220.2:n.3730C>A | ||
| ENST00000642611.2:n.5830C>A | ||
| ENST00000644057.2:n.1073C>A | ||
| ENST00000645004.2:n.1996C>A | ||
| ENST00000682051.1:n.4659C>A | ||
| ENST00000682110.1:n.4712C>A | ||
| ENST00000682140.1:c.*283C>A | ENSP00000507829.1:n.*283C>A | |
| ENST00000682185.1:n.5802C>A | ||
| ENST00000682204.1:c.*2635C>A | ENSP00000507094.1:n.*2635C>A | |
| ENST00000682215.1:n.5079C>A | ||
| ENST00000682288.1:c.*2928C>A | ENSP00000507506.1:n.*2928C>A | |
| ENST00000682442.1:n.4932C>A | ||
| ENST00000682528.1:n.4789C>A | ||
| ENST00000682673.1:n.4656C>A | ||
| ENST00000682805.1:n.5117C>A | ||
| ENST00000682965.1:c.*919C>A | ENSP00000508229.1:n.*919C>A | |
| ENST00000683093.1:n.5692C>A | ||
| ENST00000683136.1:c.4380C>A | ENSP00000507768.1:p.Thr1460= | |
| ENST00000683153.1:n.4754C>A | ||
| ENST00000683365.1:n.4814C>A | ||
| ENST00000683377.1:n.4608C>A | ||
| ENST00000683456.1:c.*1634C>A | ENSP00000508318.1:n.*1634C>A | |
| ENST00000683522.1:n.4794C>A | ||
| ENST00000683562.1:c.*2562C>A | ENSP00000508265.1:n.*2562C>A | |
| ENST00000683693.1:n.6173C>A | ||
| ENST00000683725.1:c.4393C>A | ENSP00000507496.1:p.Gln1465Lys | |
| ENST00000684010.1:n.4707C>A | ||
| ENST00000684014.1:n.684C>A | ||
| ENST00000684157.1:n.5697C>A | ||
| ENST00000684253.1:n.4615C>A | ||
| ENST00000684288.1:c.*2669C>A | ENSP00000507143.1:n.*2669C>A | |
| ENST00000684313.1:n.4144C>A | ||
| ENST00000684332.1:n.4785C>A | ||
| ENST00000684371.1:n.4818C>A | ||
| ENST00000684404.1:n.5740C>A | ||
| ENST00000684442.1:n.4936C>A | ||
| ENST00000684555.1:c.*2709C>A | ENSP00000507705.1:n.*2709C>A | |
| ENST00000684571.1:c.4338C>A | ENSP00000506935.1:p.Thr1446= | |
| ENST00000684593.1:c.*4202C>A | ENSP00000507005.1:n.*4202C>A | |
| ENST00000684711.1:c.*2893C>A | ENSP00000506841.1:n.*2893C>A | |
| ENST00000302539.9:c.4500C>A | ENSP00000303960.4:p.Thr1500= | |
| ENST00000389817.8:c.4497C>A MANE Select | ENSP00000374467.4:p.Thr1499= | |
| ENST00000642271.1:c.4494C>A | ENSP00000493749.1:p.Thr1498= | |
| ENST00000642579.1:c.2551C>A | ||
| ENST00000642611.1:n.5715C>A | ||
| ENST00000642902.1:c.4279C>A | ||
| ENST00000643260.1:c.4497C>A | ENSP00000494450.1:p.Thr1499= | |
| ENST00000643562.1:c.*2619C>A | ENSP00000496124.1:n.*2619C>A | |
| ENST00000643925.1:c.3137C>A | ||
| ENST00000644057.1:n.656C>A | ||
| ENST00000644484.1:c.*3883C>A | ENSP00000493558.1:n.*3883C>A | |
| ENST00000644675.1:c.*2669C>A | ENSP00000494567.1:n.*2669C>A | |
| ENST00000644757.1:c.*3203-1334C>A | ENSP00000495085.1:n.*3203-1334C>A | |
| ENST00000644772.1:c.4563C>A | ENSP00000494321.1:p.Thr1521= | |
| ENST00000645004.1:n.2190C>A | ||
| ENST00000645076.1:c.3592C>A | ||
| ENST00000645417.1:c.1685C>A | ||
| ENST00000645744.1:c.*4182C>A | ENSP00000494564.1:n.*4182C>A | |
| ENST00000645760.1:c.4918C>A | ||
| ENST00000645884.1:c.*1780C>A | ENSP00000495516.1:n.*1780C>A | |
| ENST00000646003.1:c.*2519C>A | ENSP00000495259.1:n.*2519C>A | |
| ENST00000646207.1:c.*3334C>A | ENSP00000495025.1:n.*3334C>A | |
| ENST00000646276.1:c.*3901C>A | ENSP00000496070.1:n.*3901C>A | |
| ENST00000646592.1:c.3803C>A | ||
| ENST00000646902.1:c.4464C>A | ENSP00000494101.1:p.Thr1488= | |
| ENST00000646993.1:c.*2935C>A | ENSP00000493720.1:n.*2935C>A | |
| ENST00000647013.1:c.4503C>A | ENSP00000496741.1:n.4503C>A | |
| ENST00000647015.1:c.4248C>A | ENSP00000495389.1:p.Thr1416= | |
| ENST00000647086.1:c.*4083C>A | ENSP00000493677.1:n.*4083C>A | |
| ENST00000647158.1:c.*2784C>A | ENSP00000495744.1:n.*2784C>A | |
| ENST00000302539.8:c.4500C>A | ENSP00000303960.4:p.Thr1500= | |
| ENST00000389817.7:c.4497C>A | ENSP00000374467.3:p.Thr1499= | |
| ENST00000525022.1:n.392C>A | ||
| ENST00000526037.5:n.257C>A | ||
| ENST00000526168.5:c.285C>A | ||
| ENST00000531642.5:c.528C>A | ||
| NM_000352.4:c.4497C>A | NP_000343.2:p.Thr1499= | |
| NM_001287174.1:c.4500C>A | NP_001274103.1:p.Thr1500= | |
| XM_011520331.1:c.4497C>A | XP_011518633.1:p.Thr1499= | |
| XM_011520332.1:c.4396C>A | XP_011518634.1:p.Gln1466Lys | |
| XM_011520333.1:c.2997C>A | XP_011518635.1:p.Thr999= | |
| XR_930890.1:n.4459C>A | ||
| NM_001351295.1:c.4563C>A | NP_001338224.1:p.Thr1521= | |
| NM_001351296.1:c.4497C>A | NP_001338225.1:p.Thr1499= | |
| NM_001351297.1:c.4494C>A | NP_001338226.1:p.Thr1498= | |
| NR_147094.1:n.4792C>A | ||
| XM_017018197.2:c.4566C>A | XP_016873686.1:p.Thr1522= | |
| XM_017018199.1:c.4563C>A | XP_016873688.1:p.Thr1521= | |
| XM_017018201.2:c.4462C>A | XP_016873690.1:p.Gln1488Lys | |
| XM_017018202.1:c.3063C>A | XP_016873691.1:p.Thr1021= | |
| XM_017018204.1:c.2454C>A | XP_016873693.1:p.Thr818= | |
| XM_024448668.1:c.2865C>A | XP_024304436.1:p.Thr955= | |
| XR_001747945.2:n.4534C>A | ||
| XR_001747946.2:n.4465C>A | ||
| XR_002957189.1:n.6248C>A | ||
| NM_000352.6:c.4497C>A MANE Select | NP_000343.2:p.Thr1499= | |
| NM_001287174.2:c.4500C>A | NP_001274103.1:p.Thr1500= | |
| NM_001351295.2:c.4563C>A | NP_001338224.1:p.Thr1521= | |
| NM_001351296.2:c.4497C>A | NP_001338225.1:p.Thr1499= | |
| NM_001351297.2:c.4494C>A | NP_001338226.1:p.Thr1498= | |
| NR_147094.2:n.4792C>A | ||
| NM_001287174.3:c.4500C>A | NP_001274103.1:p.Thr1500= |