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.17395669G= , CM000673.2:g.17395669G= | GRCh38 |
| NC_000011.9:g.17417216G= , CM000673.1:g.17417216G= | GRCh37 |
| NC_000011.8:g.17373792G= | NCBI36 |
| NG_008867.1:g.86234C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3849C= | ||
| ENST00000528374.2:c.839C= | ||
| ENST00000529967.6:n.2587C= | ||
| ENST00000532220.2:n.3481C= | ||
| ENST00000642611.2:n.5581C= | ||
| ENST00000644057.2:n.824C= | ||
| ENST00000645004.2:n.1747C= | ||
| ENST00000682051.1:n.4410C= | ||
| ENST00000682110.1:n.4463C= | ||
| ENST00000682140.1:c.*34C= | ENSP00000507829.1:n.*34C= | |
| ENST00000682185.1:n.5553C= | ||
| ENST00000682204.1:c.*2386C= | ENSP00000507094.1:n.*2386C= | |
| ENST00000682215.1:n.4830C= | ||
| ENST00000682288.1:c.*2679C= | ENSP00000507506.1:n.*2679C= | |
| ENST00000682442.1:n.4683C= | ||
| ENST00000682528.1:n.4540C= | ||
| ENST00000682673.1:n.4407C= | ||
| ENST00000682805.1:n.4868C= | ||
| ENST00000682965.1:c.*670C= | ENSP00000508229.1:n.*670C= | |
| ENST00000683093.1:n.5547C= | ||
| ENST00000683136.1:c.4131C= | ENSP00000507768.1:p.Thr1377= | |
| ENST00000683153.1:n.4505C= | ||
| ENST00000683365.1:n.4565C= | ||
| ENST00000683377.1:n.4463C= | ||
| ENST00000683456.1:c.*1385C= | ENSP00000508318.1:n.*1385C= | |
| ENST00000683522.1:n.4463C= | ||
| ENST00000683562.1:c.*2417C= | ENSP00000508265.1:n.*2417C= | |
| ENST00000683693.1:n.6028C= | ||
| ENST00000683725.1:c.4248C= | ENSP00000507496.1:p.Thr1416= | |
| ENST00000684010.1:n.4458C= | ||
| ENST00000684157.1:n.5448C= | ||
| ENST00000684253.1:n.4366C= | ||
| ENST00000684288.1:c.*2420C= | ENSP00000507143.1:n.*2420C= | |
| ENST00000684313.1:n.3895C= | ||
| ENST00000684332.1:n.4536C= | ||
| ENST00000684371.1:n.4569C= | ||
| ENST00000684404.1:n.5491C= | ||
| ENST00000684442.1:n.4687C= | ||
| ENST00000684555.1:c.*2460C= | ENSP00000507705.1:n.*2460C= | |
| ENST00000684571.1:c.4089C= | ENSP00000506935.1:p.Thr1363= | |
| ENST00000684593.1:c.*3953C= | ENSP00000507005.1:n.*3953C= | |
| ENST00000684711.1:c.*2644C= | ENSP00000506841.1:n.*2644C= | |
| ENST00000302539.9:c.4251C= | ENSP00000303960.4:p.Thr1417= | |
| ENST00000389817.8:c.4248C= MANE Select | ENSP00000374467.4:p.Thr1416= | |
| ENST00000642271.1:c.4245C= | ENSP00000493749.1:p.Thr1415= | |
| ENST00000642579.1:c.2302C= | ||
| ENST00000642611.1:n.5466C= | ||
| ENST00000642902.1:c.4030C= | ||
| ENST00000643260.1:c.4248C= | ENSP00000494450.1:p.Thr1416= | |
| ENST00000643562.1:c.*2370C= | ENSP00000496124.1:n.*2370C= | |
| ENST00000643925.1:c.2888C= | ||
| ENST00000644057.1:n.325C= | ||
| ENST00000644484.1:c.*3634C= | ENSP00000493558.1:n.*3634C= | |
| ENST00000644675.1:c.*2420C= | ENSP00000494567.1:n.*2420C= | |
| ENST00000644757.1:c.*3202+595C= | ENSP00000495085.1:n.*3202+595C= | |
| ENST00000644772.1:c.4314C= | ENSP00000494321.1:p.Thr1438= | |
| ENST00000645004.1:n.1941C= | ||
| ENST00000645076.1:c.3447C= | ||
| ENST00000645417.1:c.1436C= | ||
| ENST00000645744.1:c.*3964-31C= | ENSP00000494564.1:n.*3964-31C= | |
| ENST00000645760.1:c.4669C= | ||
| ENST00000645884.1:c.*1531C= | ENSP00000495516.1:n.*1531C= | |
| ENST00000646003.1:c.*2301-31C= | ENSP00000495259.1:n.*2301-31C= | |
| ENST00000646207.1:c.*3085C= | ENSP00000495025.1:n.*3085C= | |
| ENST00000646276.1:c.*3652C= | ENSP00000496070.1:n.*3652C= | |
| ENST00000646592.1:c.3554C= | ||
| ENST00000646902.1:c.4215C= | ENSP00000494101.1:p.Thr1405= | |
| ENST00000646993.1:c.*2790C= | ENSP00000493720.1:n.*2790C= | |
| ENST00000647013.1:c.4254C= | ENSP00000496741.1:n.4254C= | |
| ENST00000647015.1:c.3999C= | ENSP00000495389.1:p.Thr1333= | |
| ENST00000647086.1:c.*3834C= | ENSP00000493677.1:n.*3834C= | |
| ENST00000647158.1:c.*2535C= | ENSP00000495744.1:n.*2535C= | |
| ENST00000302539.8:c.4251C= | ENSP00000303960.4:p.Thr1417= | |
| ENST00000389817.7:c.4248C= | ENSP00000374467.3:p.Thr1416= | |
| ENST00000525022.1:n.247C= | ||
| ENST00000526037.5:n.112C= | ||
| ENST00000526168.5:c.67-31C= | ||
| ENST00000531642.5:c.84C= | ||
| NM_000352.4:c.4248C= | NP_000343.2:p.Thr1416= | |
| NM_001287174.1:c.4251C= | NP_001274103.1:p.Thr1417= | |
| XM_011520331.1:c.4248C= | XP_011518633.1:p.Thr1416= | |
| XM_011520332.1:c.4251C= | XP_011518634.1:p.Thr1417= | |
| XM_011520333.1:c.2748C= | XP_011518635.1:p.Thr916= | |
| XR_930890.1:n.4314C= | ||
| NM_001351295.1:c.4314C= | NP_001338224.1:p.Thr1438= | |
| NM_001351296.1:c.4248C= | NP_001338225.1:p.Thr1416= | |
| NM_001351297.1:c.4245C= | NP_001338226.1:p.Thr1415= | |
| NR_147094.1:n.4543C= | ||
| XM_017018197.2:c.4317C= | XP_016873686.1:p.Thr1439= | |
| XM_017018199.1:c.4314C= | XP_016873688.1:p.Thr1438= | |
| XM_017018201.2:c.4317C= | XP_016873690.1:p.Thr1439= | |
| XM_017018202.1:c.2814C= | XP_016873691.1:p.Thr938= | |
| XM_017018204.1:c.2205C= | XP_016873693.1:p.Thr735= | |
| XM_024448668.1:c.2616C= | XP_024304436.1:p.Thr872= | |
| XR_001747945.2:n.4389C= | ||
| XR_001747946.2:n.4320C= | ||
| XR_002957189.1:n.6103C= | ||
| NM_000352.6:c.4248C= MANE Select | NP_000343.2:p.Thr1416= | |
| NM_001287174.2:c.4251C= | NP_001274103.1:p.Thr1417= | |
| NM_001351295.2:c.4314C= | NP_001338224.1:p.Thr1438= | |
| NM_001351296.2:c.4248C= | NP_001338225.1:p.Thr1416= | |
| NM_001351297.2:c.4245C= | NP_001338226.1:p.Thr1415= | |
| NR_147094.2:n.4543C= | ||
| NM_001287174.3:c.4251C= | NP_001274103.1:p.Thr1417= |