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.17428323C= , CM000673.2:g.17428323C= | GRCh38 |
| NC_000011.9:g.17449870C= , CM000673.1:g.17449870C= | GRCh37 |
| NC_000011.8:g.17406446C= | NCBI36 |
| NG_008867.1:g.53580G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1675G= | ||
| ENST00000529967.6:n.265G= | ||
| ENST00000642611.2:n.2072G= | ||
| ENST00000682051.1:n.2019G= | ||
| ENST00000682110.1:n.2072G= | ||
| ENST00000682140.1:c.2003G= | ENSP00000507829.1:p.Ser668= | |
| ENST00000682185.1:n.3311G= | ||
| ENST00000682204.1:c.*144G= | ENSP00000507094.1:n.*144G= | |
| ENST00000682215.1:n.2072G= | ||
| ENST00000682288.1:c.*434G= | ENSP00000507506.1:n.*434G= | |
| ENST00000682442.1:n.2193G= | ||
| ENST00000682528.1:n.2072G= | ||
| ENST00000682673.1:n.2019G= | ||
| ENST00000682805.1:n.2072G= | ||
| ENST00000682965.1:c.2003G= | ENSP00000508229.1:p.Ser668= | |
| ENST00000683093.1:n.2174G= | ||
| ENST00000683136.1:c.2003G= | ENSP00000507768.1:p.Ser668= | |
| ENST00000683153.1:n.2231G= | ||
| ENST00000683253.1:n.3088G= | ||
| ENST00000683365.1:n.2174G= | ||
| ENST00000683377.1:n.2072G= | ||
| ENST00000683456.1:c.2003G= | ENSP00000508318.1:p.Ser668= | |
| ENST00000683522.1:n.2072G= | ||
| ENST00000683562.1:c.*175G= | ENSP00000508265.1:n.*175G= | |
| ENST00000683693.1:n.2072G= | ||
| ENST00000683725.1:c.2006G= | ENSP00000507496.1:p.Ser669= | |
| ENST00000684010.1:n.2072G= | ||
| ENST00000684157.1:n.2072G= | ||
| ENST00000684253.1:n.1978G= | ||
| ENST00000684288.1:c.*175G= | ENSP00000507143.1:n.*175G= | |
| ENST00000684313.1:n.1724-11361G= | ||
| ENST00000684332.1:n.2145G= | ||
| ENST00000684371.1:n.2178G= | ||
| ENST00000684404.1:n.2072G= | ||
| ENST00000684442.1:n.2072G= | ||
| ENST00000684555.1:c.*215G= | ENSP00000507705.1:n.*215G= | |
| ENST00000684571.1:c.1847G= | ENSP00000506935.1:p.Ser616= | |
| ENST00000684593.1:c.*1711G= | ENSP00000507005.1:n.*1711G= | |
| ENST00000684711.1:c.*402G= | ENSP00000506841.1:n.*402G= | |
| ENST00000302539.9:c.2006G= | ENSP00000303960.4:p.Ser669= | |
| ENST00000389817.8:c.2006G= MANE Select | ENSP00000374467.4:p.Ser669= | |
| ENST00000532728.6:c.1587G= | ||
| ENST00000642271.1:c.2003G= | ENSP00000493749.1:p.Ser668= | |
| ENST00000642579.1:c.87G= | ||
| ENST00000642611.1:n.1957G= | ||
| ENST00000642902.1:c.1841G= | ||
| ENST00000643260.1:c.2003G= | ENSP00000494450.1:p.Ser668= | |
| ENST00000643562.1:c.1998G= | ENSP00000496124.1:p.Gln666= | |
| ENST00000644447.1:c.359G= | ENSP00000496282.1:p.Ser120= | |
| ENST00000644472.1:c.*367G= | ENSP00000495378.1:n.*367G= | |
| ENST00000644484.1:c.*215G= | ENSP00000493558.1:n.*215G= | |
| ENST00000644542.1:c.*1708G= | ENSP00000495532.1:n.*1708G= | |
| ENST00000644649.1:c.1176G= | ||
| ENST00000644675.1:c.*175G= | ENSP00000494567.1:n.*175G= | |
| ENST00000644757.1:c.*308G= | ENSP00000495085.1:n.*308G= | |
| ENST00000644772.1:c.2072G= | ENSP00000494321.1:p.Ser691= | |
| ENST00000645076.1:c.1258G= | ||
| ENST00000645744.1:c.*367G= | ENSP00000494564.1:n.*367G= | |
| ENST00000645760.1:c.2281G= | ||
| ENST00000645884.1:c.2003G= | ENSP00000495516.1:p.Ser668= | |
| ENST00000646003.1:c.*144G= | ENSP00000495259.1:n.*144G= | |
| ENST00000646207.1:c.*367G= | ENSP00000495025.1:n.*367G= | |
| ENST00000646276.1:c.*276G= | ENSP00000496070.1:n.*276G= | |
| ENST00000646592.1:c.1229G= | ||
| ENST00000646902.1:c.2003G= | ENSP00000494101.1:p.Ser668= | |
| ENST00000646993.1:c.*402G= | ENSP00000493720.1:n.*402G= | |
| ENST00000647013.1:c.2009G= | ENSP00000496741.1:n.2009G= | |
| ENST00000647015.1:c.1754G= | ENSP00000495389.1:p.Ser585= | |
| ENST00000647086.1:c.*1733G= | ENSP00000493677.1:n.*1733G= | |
| ENST00000647158.1:c.*144G= | ENSP00000495744.1:n.*144G= | |
| ENST00000302539.8:c.2006G= | ENSP00000303960.4:p.Ser669= | |
| ENST00000389817.7:c.2006G= | ENSP00000374467.3:p.Ser669= | |
| ENST00000527905.5:c.1976G= | ENSP00000431653.1:p.Ser659= | |
| NM_000352.4:c.2006G= | NP_000343.2:p.Ser669= | |
| NM_001287174.1:c.2006G= | NP_001274103.1:p.Ser669= | |
| XM_011520331.1:c.2003G= | XP_011518633.1:p.Ser668= | |
| XM_011520332.1:c.2006G= | XP_011518634.1:p.Ser669= | |
| XM_011520333.1:c.503G= | XP_011518635.1:p.Ser168= | |
| XM_011520334.1:c.2006G= | XP_011518636.1:p.Ser669= | |
| XR_930890.1:n.2069G= | ||
| XR_930891.1:n.2069G= | ||
| XR_930892.1:n.2069G= | ||
| XR_930893.1:n.2069G= | ||
| NM_001351295.1:c.2072G= | NP_001338224.1:p.Ser691= | |
| NM_001351296.1:c.2003G= | NP_001338225.1:p.Ser668= | |
| NM_001351297.1:c.2003G= | NP_001338226.1:p.Ser668= | |
| NR_147094.1:n.2072G= | ||
| XM_017018197.2:c.2072G= | XP_016873686.1:p.Ser691= | |
| XM_017018199.1:c.2069G= | XP_016873688.1:p.Ser690= | |
| XM_017018201.2:c.2072G= | XP_016873690.1:p.Ser691= | |
| XM_017018202.1:c.569G= | XP_016873691.1:p.Ser190= | |
| XM_017018204.1:c.-38G= | XP_016873693.1:n.-38G= | |
| XM_024448668.1:c.371G= | XP_024304436.1:p.Ser124= | |
| XR_001747945.2:n.2144G= | ||
| XR_001747946.2:n.2078G= | ||
| XR_002957189.1:n.2144G= | ||
| NM_000352.6:c.2006G= MANE Select | NP_000343.2:p.Ser669= | |
| NM_001287174.2:c.2006G= | NP_001274103.1:p.Ser669= | |
| NM_001351295.2:c.2072G= | NP_001338224.1:p.Ser691= | |
| NM_001351296.2:c.2003G= | NP_001338225.1:p.Ser668= | |
| NM_001351297.2:c.2003G= | NP_001338226.1:p.Ser668= | |
| NR_147094.2:n.2072G= | ||
| NM_001287174.3:c.2006G= | NP_001274103.1:p.Ser669= |