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_000010.11:g.89014343G= , CM000672.2:g.89014343G= | GRCh38 |
| NC_000010.10:g.90774100G= , CM000672.1:g.90774100G= | GRCh37 |
| NC_000010.9:g.90764080G= | NCBI36 |
| NG_009089.2:g.28813G= , LRG_134:g.28813G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1210G= | ||
| ENST00000355740.8:c.*224G= | ENSP00000347979.3:n.*224G= | |
| ENST00000357339.7:c.838G= | ENSP00000349896.2:p.Ala280= | |
| ENST00000371857.8:n.2446G= | ||
| ENST00000460510.6:c.184G= | ENSP00000512812.1:p.Ala62= | |
| ENST00000466081.6:n.2550G= | ||
| ENST00000477270.6:c.946G= | ENSP00000512813.1:p.Ala316= | |
| ENST00000479522.6:c.*330G= | ENSP00000424113.1:n.*330G= | |
| ENST00000484444.6:c.*342G= | ENSP00000420975.1:n.*342G= | |
| ENST00000488877.6:c.792G= | ENSP00000425159.1:n.792G= | |
| ENST00000492756.7:c.*330G= | ENSP00000422453.1:n.*330G= | |
| ENST00000494799.6:c.184G= | ENSP00000512834.1:p.Ala62= | |
| ENST00000562983.3:c.184G= | ENSP00000512845.1:p.Ala62= | |
| ENST00000612663.6:c.*303G= | ENSP00000477997.3:n.*303G= | |
| ENST00000640140.2:n.1046G= | ||
| ENST00000640250.2:n.400G= | ||
| ENST00000640681.2:n.1005G= | ||
| ENST00000696723.1:n.4534G= | ||
| ENST00000696741.1:n.2539G= | ||
| ENST00000696742.1:n.2266G= | ||
| ENST00000696743.1:n.3669G= | ||
| ENST00000696744.1:n.940G= | ||
| ENST00000696767.1:n.1235G= | ||
| ENST00000696768.1:c.*224G= | ENSP00000512859.1:n.*224G= | |
| ENST00000696769.1:n.2590G= | ||
| ENST00000696771.1:c.184G= | ENSP00000512860.1:p.Ala62= | |
| ENST00000696772.1:n.2504G= | ||
| ENST00000696773.1:n.2243G= | ||
| ENST00000696774.1:n.6011G= | ||
| ENST00000696776.1:c.994G= | ENSP00000512861.1:p.Ala332= | |
| ENST00000696777.1:n.2309G= | ||
| ENST00000696778.1:n.1337G= | ||
| ENST00000696779.1:c.508G= | ENSP00000512862.1:p.Ala170= | |
| ENST00000696780.1:c.931G= | ENSP00000512863.1:p.Ala311= | |
| ENST00000696781.1:c.646G= | ENSP00000512864.1:p.Ala216= | |
| ENST00000696782.1:c.*303G= | ENSP00000512865.1:n.*303G= | |
| ENST00000696783.1:n.2769G= | ||
| ENST00000696992.1:n.2018G= | ||
| ENST00000696995.1:n.4430G= | ||
| ENST00000696996.1:n.2343G= | ||
| ENST00000696997.1:c.*531G= | ENSP00000513028.1:n.*531G= | |
| ENST00000696998.1:n.2155G= | ||
| ENST00000696999.1:c.184G= | ENSP00000513029.1:p.Ala62= | |
| ENST00000697036.1:c.*317G= | ENSP00000513060.1:n.*317G= | |
| ENST00000697037.1:n.936G= | ||
| ENST00000697093.1:n.3137G= | ||
| ENST00000697094.1:n.3484G= | ||
| ENST00000697095.1:c.*2102G= | ENSP00000513104.1:n.*2102G= | |
| ENST00000697096.1:n.2034G= | ||
| ENST00000697097.1:c.184G= | ENSP00000513105.1:p.Ala62= | |
| ENST00000562983.2:n.1087G= | ||
| ENST00000690268.1:c.982G= | ENSP00000509810.1:p.Ala328= | |
| ENST00000355740.7:c.*227G= | ENSP00000347979.3:n.*227G= | |
| ENST00000612663.5:c.*303G= | ENSP00000477997.3:n.*303G= | |
| ENST00000640140.1:n.1073G= | ||
| ENST00000640250.1:n.400G= | ||
| ENST00000640681.1:n.1022G= | ||
| ENST00000652046.1:c.901G= MANE Select | ENSP00000498466.1:p.Ala301= | |
| ENST00000352159.8:c.*218G= | ENSP00000345601.4:n.*218G= | |
| ENST00000355279.2:c.876G= | ENSP00000347426.2:n.876G= | |
| ENST00000355740.6:c.901G= | ENSP00000347979.2:p.Ala301= | |
| ENST00000357339.6:c.838G= | ENSP00000349896.2:p.Ala280= | |
| ENST00000479522.5:c.*330G= | ENSP00000424113.1:n.*330G= | |
| ENST00000484444.5:c.*342G= | ENSP00000420975.1:n.*342G= | |
| ENST00000488877.5:c.*342G= | ENSP00000425159.1:n.*342G= | |
| ENST00000492756.5:c.729G= | ENSP00000422453.1:n.729G= | |
| ENST00000494410.5:c.*259G= | ENSP00000423755.1:n.*259G= | |
| ENST00000612663.4:c.*248G= | ENSP00000477997.2:n.*248G= | |
| NM_000043.4:c.901G= , LRG_134t1:c.901G= | NP_000034.1:p.Ala301= | |
| NM_152871.2:c.838G= | NP_690610.1:p.Ala280= | |
| NM_152872.2:c.*213G= | NP_690611.1:n.*213G= | |
| NR_028033.2:n.1075G= | ||
| NR_028034.2:n.937G= | ||
| NR_028035.2:n.1000G= | ||
| NR_028036.2:n.1138G= | ||
| XM_006717819.2:c.982G= | XP_006717882.1:p.Ala328= | |
| XM_011539764.1:c.1063G= | XP_011538066.1:p.Ala355= | |
| XM_011539765.1:c.1000G= | XP_011538067.1:p.Ala334= | |
| XM_011539766.1:c.982G= | XP_011538068.1:p.Ala328= | |
| XM_011539767.1:c.946G= | XP_011538069.1:p.Ala316= | |
| XR_945732.1:n.969G= | ||
| XR_945733.1:n.906G= | ||
| NM_000043.5:c.901G= | NP_000034.1:p.Ala301= | |
| NM_001320619.1:c.*224G= | NP_001307548.1:n.*224G= | |
| NM_152871.3:c.838G= | NP_690610.1:p.Ala280= | |
| NM_152872.3:c.*213G= | NP_690611.1:n.*213G= | |
| NR_028033.3:n.1047G= | ||
| NR_028034.3:n.909G= | ||
| NR_028035.3:n.972G= | ||
| NR_028036.3:n.1110G= | ||
| NR_135313.1:n.1027G= | ||
| NR_135314.1:n.1210G= | ||
| NR_135315.1:n.963G= | ||
| XM_006717819.3:c.982G= | XP_006717882.1:p.Ala328= | |
| XM_011539764.2:c.1063G= | XP_011538066.1:p.Ala355= | |
| XM_011539765.2:c.1000G= | XP_011538067.1:p.Ala334= | |
| XM_011539766.2:c.982G= | XP_011538068.1:p.Ala328= | |
| XM_011539767.3:c.946G= | XP_011538069.1:p.Ala316= | |
| XR_945732.3:n.969G= | ||
| XR_945733.2:n.906G= | ||
| NM_000043.6:c.901G= MANE Select | NP_000034.1:p.Ala301= | |
| NM_001320619.2:c.*224G= | NP_001307548.1:n.*224G= | |
| NM_152871.4:c.838G= | NP_690610.1:p.Ala280= | |
| NM_152872.4:c.*213G= | NP_690611.1:n.*213G= | |
| NR_028033.4:n.808G= | ||
| NR_028034.4:n.670G= | ||
| NR_028035.4:n.733G= | ||
| NR_028036.4:n.871G= | ||
| NR_135313.2:n.788G= | ||
| NR_135314.2:n.1067G= | ||
| NR_135315.2:n.820G= |