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.89014203T= , CM000672.2:g.89014203T= | GRCh38 |
| NC_000010.10:g.90773960T= , CM000672.1:g.90773960T= | GRCh37 |
| NC_000010.9:g.90763940T= | NCBI36 |
| NG_009089.2:g.28673T= , LRG_134:g.28673T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1070T= | ||
| ENST00000355740.8:c.*84T= | ENSP00000347979.3:n.*84T= | |
| ENST00000357339.7:c.698T= | ENSP00000349896.2:p.Val233= | |
| ENST00000371857.8:n.2306T= | ||
| ENST00000460510.6:c.44T= | ENSP00000512812.1:p.Val15= | |
| ENST00000466081.6:n.2410T= | ||
| ENST00000477270.6:c.806T= | ENSP00000512813.1:p.Val269= | |
| ENST00000479522.6:c.*190T= | ENSP00000424113.1:n.*190T= | |
| ENST00000484444.6:c.*202T= | ENSP00000420975.1:n.*202T= | |
| ENST00000488877.6:c.652T= | ENSP00000425159.1:n.652T= | |
| ENST00000492756.7:c.*190T= | ENSP00000422453.1:n.*190T= | |
| ENST00000494799.6:c.44T= | ENSP00000512834.1:p.Val15= | |
| ENST00000562983.3:c.44T= | ENSP00000512845.1:p.Val15= | |
| ENST00000612663.6:c.*163T= | ENSP00000477997.3:n.*163T= | |
| ENST00000640140.2:n.906T= | ||
| ENST00000640250.2:n.260T= | ||
| ENST00000640681.2:n.865T= | ||
| ENST00000696723.1:n.4394T= | ||
| ENST00000696741.1:n.2399T= | ||
| ENST00000696742.1:n.2126T= | ||
| ENST00000696743.1:n.3529T= | ||
| ENST00000696744.1:n.800T= | ||
| ENST00000696767.1:n.1095T= | ||
| ENST00000696768.1:c.*84T= | ENSP00000512859.1:n.*84T= | |
| ENST00000696769.1:n.2450T= | ||
| ENST00000696771.1:c.44T= | ENSP00000512860.1:p.Val15= | |
| ENST00000696772.1:n.2364T= | ||
| ENST00000696773.1:n.2103T= | ||
| ENST00000696774.1:n.5871T= | ||
| ENST00000696776.1:c.854T= | ENSP00000512861.1:p.Val285= | |
| ENST00000696777.1:n.2169T= | ||
| ENST00000696778.1:n.1197T= | ||
| ENST00000696779.1:c.368T= | ENSP00000512862.1:p.Val123= | |
| ENST00000696780.1:c.791T= | ENSP00000512863.1:p.Val264= | |
| ENST00000696781.1:c.506T= | ENSP00000512864.1:p.Val169= | |
| ENST00000696782.1:c.*163T= | ENSP00000512865.1:n.*163T= | |
| ENST00000696783.1:n.2629T= | ||
| ENST00000696992.1:n.1878T= | ||
| ENST00000696995.1:n.4290T= | ||
| ENST00000696996.1:n.2203T= | ||
| ENST00000696997.1:c.*391T= | ENSP00000513028.1:n.*391T= | |
| ENST00000696998.1:n.2015T= | ||
| ENST00000696999.1:c.44T= | ENSP00000513029.1:p.Val15= | |
| ENST00000697035.1:c.*94T= | ENSP00000513059.1:n.*94T= | |
| ENST00000697036.1:c.*177T= | ENSP00000513060.1:n.*177T= | |
| ENST00000697037.1:n.796T= | ||
| ENST00000697093.1:n.2997T= | ||
| ENST00000697094.1:n.3344T= | ||
| ENST00000697095.1:c.*1962T= | ENSP00000513104.1:n.*1962T= | |
| ENST00000697096.1:n.1894T= | ||
| ENST00000697097.1:c.44T= | ENSP00000513105.1:p.Val15= | |
| ENST00000562983.2:n.947T= | ||
| ENST00000690268.1:c.842T= | ENSP00000509810.1:p.Val281= | |
| ENST00000355740.7:c.*87T= | ENSP00000347979.3:n.*87T= | |
| ENST00000612663.5:c.*163T= | ENSP00000477997.3:n.*163T= | |
| ENST00000640140.1:n.933T= | ||
| ENST00000640250.1:n.260T= | ||
| ENST00000640681.1:n.882T= | ||
| ENST00000652046.1:c.761T= MANE Select | ENSP00000498466.1:p.Val254= | |
| ENST00000352159.8:c.*78T= | ENSP00000345601.4:n.*78T= | |
| ENST00000355279.2:c.736T= | ENSP00000347426.2:n.736T= | |
| ENST00000355740.6:c.761T= | ENSP00000347979.2:p.Val254= | |
| ENST00000357339.6:c.698T= | ENSP00000349896.2:p.Val233= | |
| ENST00000479522.5:c.*190T= | ENSP00000424113.1:n.*190T= | |
| ENST00000484444.5:c.*202T= | ENSP00000420975.1:n.*202T= | |
| ENST00000488877.5:c.*202T= | ENSP00000425159.1:n.*202T= | |
| ENST00000492756.5:c.589T= | ENSP00000422453.1:n.589T= | |
| ENST00000494410.5:c.*119T= | ENSP00000423755.1:n.*119T= | |
| ENST00000494799.5:n.668T= | ||
| ENST00000612663.4:c.*108T= | ENSP00000477997.2:n.*108T= | |
| ENST00000615406.4:c.759T= | ENSP00000484575.1:p.Cys253= | |
| NM_000043.4:c.761T= , LRG_134t1:c.761T= | NP_000034.1:p.Val254= | |
| NM_152871.2:c.698T= | NP_690610.1:p.Val233= | |
| NM_152872.2:c.*73T= | NP_690611.1:n.*73T= | |
| NR_028033.2:n.935T= | ||
| NR_028034.2:n.797T= | ||
| NR_028035.2:n.860T= | ||
| NR_028036.2:n.998T= | ||
| XM_006717819.2:c.842T= | XP_006717882.1:p.Val281= | |
| XM_011539764.1:c.923T= | XP_011538066.1:p.Val308= | |
| XM_011539765.1:c.860T= | XP_011538067.1:p.Val287= | |
| XM_011539766.1:c.842T= | XP_011538068.1:p.Val281= | |
| XM_011539767.1:c.806T= | XP_011538069.1:p.Val269= | |
| XR_945732.1:n.829T= | ||
| XR_945733.1:n.766T= | ||
| NM_000043.5:c.761T= | NP_000034.1:p.Val254= | |
| NM_001320619.1:c.*84T= | NP_001307548.1:n.*84T= | |
| NM_152871.3:c.698T= | NP_690610.1:p.Val233= | |
| NM_152872.3:c.*73T= | NP_690611.1:n.*73T= | |
| NR_028033.3:n.907T= | ||
| NR_028034.3:n.769T= | ||
| NR_028035.3:n.832T= | ||
| NR_028036.3:n.970T= | ||
| NR_135313.1:n.887T= | ||
| NR_135314.1:n.1070T= | ||
| NR_135315.1:n.823T= | ||
| XM_006717819.3:c.842T= | XP_006717882.1:p.Val281= | |
| XM_011539764.2:c.923T= | XP_011538066.1:p.Val308= | |
| XM_011539765.2:c.860T= | XP_011538067.1:p.Val287= | |
| XM_011539766.2:c.842T= | XP_011538068.1:p.Val281= | |
| XM_011539767.3:c.806T= | XP_011538069.1:p.Val269= | |
| XR_945732.3:n.829T= | ||
| XR_945733.2:n.766T= | ||
| NM_000043.6:c.761T= MANE Select | NP_000034.1:p.Val254= | |
| NM_001320619.2:c.*84T= | NP_001307548.1:n.*84T= | |
| NM_152871.4:c.698T= | NP_690610.1:p.Val233= | |
| NM_152872.4:c.*73T= | NP_690611.1:n.*73T= | |
| NR_028033.4:n.668T= | ||
| NR_028034.4:n.530T= | ||
| NR_028035.4:n.593T= | ||
| NR_028036.4:n.731T= | ||
| NR_135313.2:n.648T= | ||
| NR_135314.2:n.927T= | ||
| NR_135315.2:n.680T= |