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.17396943G= , CM000673.2:g.17396943G= | GRCh38 |
| NC_000011.9:g.17418490G= , CM000673.1:g.17418490G= | GRCh37 |
| NC_000011.8:g.17375066G= | NCBI36 |
| NG_008867.1:g.84960C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3693C= | ||
| ENST00000528374.2:c.683C= | ||
| ENST00000529967.6:n.2431C= | ||
| ENST00000532220.2:n.2340C= | ||
| ENST00000642611.2:n.4307C= | ||
| ENST00000644057.2:n.535C= | ||
| ENST00000645004.2:n.1591C= | ||
| ENST00000682051.1:n.4254C= | ||
| ENST00000682110.1:n.4307C= | ||
| ENST00000682140.1:c.3985+250C= | ENSP00000507829.1:n.3985+250C= | |
| ENST00000682185.1:n.5397C= | ||
| ENST00000682204.1:c.*2230C= | ENSP00000507094.1:n.*2230C= | |
| ENST00000682215.1:n.4674C= | ||
| ENST00000682288.1:c.*2523C= | ENSP00000507506.1:n.*2523C= | |
| ENST00000682442.1:n.4527C= | ||
| ENST00000682528.1:n.4384C= | ||
| ENST00000682673.1:n.4251C= | ||
| ENST00000682805.1:n.4674C= | ||
| ENST00000682965.1:c.*514C= | ENSP00000508229.1:n.*514C= | |
| ENST00000683093.1:n.4406C= | ||
| ENST00000683136.1:c.3975C= | ENSP00000507768.1:p.Val1325= | |
| ENST00000683153.1:n.4349C= | ||
| ENST00000683365.1:n.4409C= | ||
| ENST00000683377.1:n.4307C= | ||
| ENST00000683456.1:c.*1229C= | ENSP00000508318.1:n.*1229C= | |
| ENST00000683522.1:n.4307C= | ||
| ENST00000683562.1:c.*2261C= | ENSP00000508265.1:n.*2261C= | |
| ENST00000683693.1:n.4754C= | ||
| ENST00000683725.1:c.4092C= | ENSP00000507496.1:p.Val1364= | |
| ENST00000684010.1:n.4302C= | ||
| ENST00000684157.1:n.4307C= | ||
| ENST00000684253.1:n.4210C= | ||
| ENST00000684288.1:c.*2264C= | ENSP00000507143.1:n.*2264C= | |
| ENST00000684313.1:n.3739C= | ||
| ENST00000684332.1:n.4380C= | ||
| ENST00000684371.1:n.4413C= | ||
| ENST00000684404.1:n.4350C= | ||
| ENST00000684442.1:n.4531C= | ||
| ENST00000684555.1:c.*2304C= | ENSP00000507705.1:n.*2304C= | |
| ENST00000684571.1:c.3933C= | ENSP00000506935.1:p.Val1311= | |
| ENST00000684593.1:c.*3797C= | ENSP00000507005.1:n.*3797C= | |
| ENST00000684711.1:c.*2488C= | ENSP00000506841.1:n.*2488C= | |
| ENST00000302539.9:c.4095C= | ENSP00000303960.4:p.Val1365= | |
| ENST00000389817.8:c.4092C= MANE Select | ENSP00000374467.4:p.Val1364= | |
| ENST00000642271.1:c.4089C= | ENSP00000493749.1:p.Val1363= | |
| ENST00000642579.1:c.2146C= | ||
| ENST00000642611.1:n.4192C= | ||
| ENST00000642902.1:c.3874C= | ||
| ENST00000643260.1:c.4092C= | ENSP00000494450.1:p.Val1364= | |
| ENST00000643562.1:c.*2214C= | ENSP00000496124.1:n.*2214C= | |
| ENST00000643925.1:c.2732C= | ||
| ENST00000644057.1:n.169C= | ||
| ENST00000644484.1:c.*2493C= | ENSP00000493558.1:n.*2493C= | |
| ENST00000644675.1:c.*2264C= | ENSP00000494567.1:n.*2264C= | |
| ENST00000644757.1:c.*2523C= | ENSP00000495085.1:n.*2523C= | |
| ENST00000644772.1:c.4158C= | ENSP00000494321.1:p.Val1386= | |
| ENST00000645004.1:n.1747C= | ||
| ENST00000645076.1:c.3291C= | ||
| ENST00000645417.1:c.1280C= | ||
| ENST00000645744.1:c.*2872C= | ENSP00000494564.1:n.*2872C= | |
| ENST00000645760.1:c.4513C= | ||
| ENST00000645884.1:c.*1375C= | ENSP00000495516.1:n.*1375C= | |
| ENST00000646003.1:c.*2194C= | ENSP00000495259.1:n.*2194C= | |
| ENST00000646207.1:c.*2929C= | ENSP00000495025.1:n.*2929C= | |
| ENST00000646276.1:c.*2511C= | ENSP00000496070.1:n.*2511C= | |
| ENST00000646592.1:c.3398C= | ||
| ENST00000646902.1:c.4059C= | ENSP00000494101.1:p.Val1353= | |
| ENST00000646993.1:c.*2634C= | ENSP00000493720.1:n.*2634C= | |
| ENST00000647013.1:c.4098C= | ENSP00000496741.1:n.4098C= | |
| ENST00000647015.1:c.3843C= | ENSP00000495389.1:p.Val1281= | |
| ENST00000647086.1:c.*3678C= | ENSP00000493677.1:n.*3678C= | |
| ENST00000647158.1:c.*2379C= | ENSP00000495744.1:n.*2379C= | |
| ENST00000302539.8:c.4095C= | ENSP00000303960.4:p.Val1365= | |
| ENST00000389817.7:c.4092C= | ENSP00000374467.3:p.Val1364= | |
| ENST00000527905.5:c.*1114C= | ENSP00000431653.1:n.*1114C= | |
| ENST00000528374.1:c.574C= | ||
| ENST00000531137.1:n.657C= | ||
| ENST00000531891.1:c.430C= | ||
| ENST00000532220.1:n.566C= | ||
| NM_000352.4:c.4092C= | NP_000343.2:p.Val1364= | |
| NM_001287174.1:c.4095C= | NP_001274103.1:p.Val1365= | |
| XM_011520331.1:c.4092C= | XP_011518633.1:p.Val1364= | |
| XM_011520332.1:c.4095C= | XP_011518634.1:p.Val1365= | |
| XM_011520333.1:c.2592C= | XP_011518635.1:p.Val864= | |
| XR_930890.1:n.4158C= | ||
| NM_001351295.1:c.4158C= | NP_001338224.1:p.Val1386= | |
| NM_001351296.1:c.4092C= | NP_001338225.1:p.Val1364= | |
| NM_001351297.1:c.4089C= | NP_001338226.1:p.Val1363= | |
| NR_147094.1:n.4387C= | ||
| XM_017018197.2:c.4161C= | XP_016873686.1:p.Val1387= | |
| XM_017018199.1:c.4158C= | XP_016873688.1:p.Val1386= | |
| XM_017018201.2:c.4161C= | XP_016873690.1:p.Val1387= | |
| XM_017018202.1:c.2658C= | XP_016873691.1:p.Val886= | |
| XM_017018204.1:c.2049C= | XP_016873693.1:p.Val683= | |
| XM_024448668.1:c.2460C= | XP_024304436.1:p.Val820= | |
| XR_001747945.2:n.4233C= | ||
| XR_001747946.2:n.4164C= | ||
| XR_002957189.1:n.4829C= | ||
| NM_000352.6:c.4092C= MANE Select | NP_000343.2:p.Val1364= | |
| NM_001287174.2:c.4095C= | NP_001274103.1:p.Val1365= | |
| NM_001351295.2:c.4158C= | NP_001338224.1:p.Val1386= | |
| NM_001351296.2:c.4092C= | NP_001338225.1:p.Val1364= | |
| NM_001351297.2:c.4089C= | NP_001338226.1:p.Val1363= | |
| NR_147094.2:n.4387C= | ||
| NM_001287174.3:c.4095C= | NP_001274103.1:p.Val1365= |