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.89014251C= , CM000672.2:g.89014251C= | GRCh38 |
| NC_000010.10:g.90774008C= , CM000672.1:g.90774008C= | GRCh37 |
| NC_000010.9:g.90763988C= | NCBI36 |
| NG_009089.2:g.28721C= , LRG_134:g.28721C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1118C= | ||
| ENST00000355740.8:c.*132C= | ENSP00000347979.3:n.*132C= | |
| ENST00000357339.7:c.746C= | ENSP00000349896.2:p.Thr249= | |
| ENST00000371857.8:n.2354C= | ||
| ENST00000460510.6:c.92C= | ENSP00000512812.1:p.Thr31= | |
| ENST00000466081.6:n.2458C= | ||
| ENST00000477270.6:c.854C= | ENSP00000512813.1:p.Thr285= | |
| ENST00000479522.6:c.*238C= | ENSP00000424113.1:n.*238C= | |
| ENST00000484444.6:c.*250C= | ENSP00000420975.1:n.*250C= | |
| ENST00000488877.6:c.700C= | ENSP00000425159.1:n.700C= | |
| ENST00000492756.7:c.*238C= | ENSP00000422453.1:n.*238C= | |
| ENST00000494799.6:c.92C= | ENSP00000512834.1:p.Thr31= | |
| ENST00000562983.3:c.92C= | ENSP00000512845.1:p.Thr31= | |
| ENST00000612663.6:c.*211C= | ENSP00000477997.3:n.*211C= | |
| ENST00000640140.2:n.954C= | ||
| ENST00000640250.2:n.308C= | ||
| ENST00000640681.2:n.913C= | ||
| ENST00000696723.1:n.4442C= | ||
| ENST00000696741.1:n.2447C= | ||
| ENST00000696742.1:n.2174C= | ||
| ENST00000696743.1:n.3577C= | ||
| ENST00000696744.1:n.848C= | ||
| ENST00000696767.1:n.1143C= | ||
| ENST00000696768.1:c.*132C= | ENSP00000512859.1:n.*132C= | |
| ENST00000696769.1:n.2498C= | ||
| ENST00000696771.1:c.92C= | ENSP00000512860.1:p.Thr31= | |
| ENST00000696772.1:n.2412C= | ||
| ENST00000696773.1:n.2151C= | ||
| ENST00000696774.1:n.5919C= | ||
| ENST00000696776.1:c.902C= | ENSP00000512861.1:p.Thr301= | |
| ENST00000696777.1:n.2217C= | ||
| ENST00000696778.1:n.1245C= | ||
| ENST00000696779.1:c.416C= | ENSP00000512862.1:p.Thr139= | |
| ENST00000696780.1:c.839C= | ENSP00000512863.1:p.Thr280= | |
| ENST00000696781.1:c.554C= | ENSP00000512864.1:p.Thr185= | |
| ENST00000696782.1:c.*211C= | ENSP00000512865.1:n.*211C= | |
| ENST00000696783.1:n.2677C= | ||
| ENST00000696992.1:n.1926C= | ||
| ENST00000696995.1:n.4338C= | ||
| ENST00000696996.1:n.2251C= | ||
| ENST00000696997.1:c.*439C= | ENSP00000513028.1:n.*439C= | |
| ENST00000696998.1:n.2063C= | ||
| ENST00000696999.1:c.92C= | ENSP00000513029.1:p.Thr31= | |
| ENST00000697035.1:c.*142C= | ENSP00000513059.1:n.*142C= | |
| ENST00000697036.1:c.*225C= | ENSP00000513060.1:n.*225C= | |
| ENST00000697037.1:n.844C= | ||
| ENST00000697093.1:n.3045C= | ||
| ENST00000697094.1:n.3392C= | ||
| ENST00000697095.1:c.*2010C= | ENSP00000513104.1:n.*2010C= | |
| ENST00000697096.1:n.1942C= | ||
| ENST00000697097.1:c.92C= | ENSP00000513105.1:p.Thr31= | |
| ENST00000562983.2:n.995C= | ||
| ENST00000690268.1:c.890C= | ENSP00000509810.1:p.Thr297= | |
| ENST00000355740.7:c.*135C= | ENSP00000347979.3:n.*135C= | |
| ENST00000612663.5:c.*211C= | ENSP00000477997.3:n.*211C= | |
| ENST00000640140.1:n.981C= | ||
| ENST00000640250.1:n.308C= | ||
| ENST00000640681.1:n.930C= | ||
| ENST00000652046.1:c.809C= MANE Select | ENSP00000498466.1:p.Thr270= | |
| ENST00000352159.8:c.*126C= | ENSP00000345601.4:n.*126C= | |
| ENST00000355279.2:c.784C= | ENSP00000347426.2:n.784C= | |
| ENST00000355740.6:c.809C= | ENSP00000347979.2:p.Thr270= | |
| ENST00000357339.6:c.746C= | ENSP00000349896.2:p.Thr249= | |
| ENST00000479522.5:c.*238C= | ENSP00000424113.1:n.*238C= | |
| ENST00000484444.5:c.*250C= | ENSP00000420975.1:n.*250C= | |
| ENST00000488877.5:c.*250C= | ENSP00000425159.1:n.*250C= | |
| ENST00000492756.5:c.637C= | ENSP00000422453.1:n.637C= | |
| ENST00000494410.5:c.*167C= | ENSP00000423755.1:n.*167C= | |
| ENST00000612663.4:c.*156C= | ENSP00000477997.2:n.*156C= | |
| NM_000043.4:c.809C= , LRG_134t1:c.809C= | NP_000034.1:p.Thr270= | |
| NM_152871.2:c.746C= | NP_690610.1:p.Thr249= | |
| NM_152872.2:c.*121C= | NP_690611.1:n.*121C= | |
| NR_028033.2:n.983C= | ||
| NR_028034.2:n.845C= | ||
| NR_028035.2:n.908C= | ||
| NR_028036.2:n.1046C= | ||
| XM_006717819.2:c.890C= | XP_006717882.1:p.Thr297= | |
| XM_011539764.1:c.971C= | XP_011538066.1:p.Thr324= | |
| XM_011539765.1:c.908C= | XP_011538067.1:p.Thr303= | |
| XM_011539766.1:c.890C= | XP_011538068.1:p.Thr297= | |
| XM_011539767.1:c.854C= | XP_011538069.1:p.Thr285= | |
| XR_945732.1:n.877C= | ||
| XR_945733.1:n.814C= | ||
| NM_000043.5:c.809C= | NP_000034.1:p.Thr270= | |
| NM_001320619.1:c.*132C= | NP_001307548.1:n.*132C= | |
| NM_152871.3:c.746C= | NP_690610.1:p.Thr249= | |
| NM_152872.3:c.*121C= | NP_690611.1:n.*121C= | |
| NR_028033.3:n.955C= | ||
| NR_028034.3:n.817C= | ||
| NR_028035.3:n.880C= | ||
| NR_028036.3:n.1018C= | ||
| NR_135313.1:n.935C= | ||
| NR_135314.1:n.1118C= | ||
| NR_135315.1:n.871C= | ||
| XM_006717819.3:c.890C= | XP_006717882.1:p.Thr297= | |
| XM_011539764.2:c.971C= | XP_011538066.1:p.Thr324= | |
| XM_011539765.2:c.908C= | XP_011538067.1:p.Thr303= | |
| XM_011539766.2:c.890C= | XP_011538068.1:p.Thr297= | |
| XM_011539767.3:c.854C= | XP_011538069.1:p.Thr285= | |
| XR_945732.3:n.877C= | ||
| XR_945733.2:n.814C= | ||
| NM_000043.6:c.809C= MANE Select | NP_000034.1:p.Thr270= | |
| NM_001320619.2:c.*132C= | NP_001307548.1:n.*132C= | |
| NM_152871.4:c.746C= | NP_690610.1:p.Thr249= | |
| NM_152872.4:c.*121C= | NP_690611.1:n.*121C= | |
| NR_028033.4:n.716C= | ||
| NR_028034.4:n.578C= | ||
| NR_028035.4:n.641C= | ||
| NR_028036.4:n.779C= | ||
| NR_135313.2:n.696C= | ||
| NR_135314.2:n.975C= | ||
| NR_135315.2:n.728C= |