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.89014136T= , CM000672.2:g.89014136T= | GRCh38 |
| NC_000010.10:g.90773893T= , CM000672.1:g.90773893T= | GRCh37 |
| NC_000010.9:g.90763873T= | NCBI36 |
| NG_009089.2:g.28606T= , LRG_134:g.28606T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1003T= | ||
| ENST00000355740.8:c.*17T= | ENSP00000347979.3:n.*17T= | |
| ENST00000357339.7:c.631T= | ENSP00000349896.2:p.Tyr211= | |
| ENST00000371857.8:n.2239T= | ||
| ENST00000460510.6:c.-24T= | ENSP00000512812.1:n.-24T= | |
| ENST00000466081.6:n.2343T= | ||
| ENST00000477270.6:c.739T= | ENSP00000512813.1:p.Tyr247= | |
| ENST00000479522.6:c.*123T= | ENSP00000424113.1:n.*123T= | |
| ENST00000484444.6:c.*135T= | ENSP00000420975.1:n.*135T= | |
| ENST00000488877.6:c.585T= | ENSP00000425159.1:n.585T= | |
| ENST00000492756.7:c.*123T= | ENSP00000422453.1:n.*123T= | |
| ENST00000494799.6:c.-24T= | ENSP00000512834.1:n.-24T= | |
| ENST00000562983.3:c.-24T= | ENSP00000512845.1:n.-24T= | |
| ENST00000612663.6:c.*96T= | ENSP00000477997.3:n.*96T= | |
| ENST00000640140.2:n.839T= | ||
| ENST00000640250.2:n.193T= | ||
| ENST00000640681.2:n.798T= | ||
| ENST00000696723.1:n.4327T= | ||
| ENST00000696741.1:n.2332T= | ||
| ENST00000696742.1:n.2059T= | ||
| ENST00000696743.1:n.3462T= | ||
| ENST00000696744.1:n.733T= | ||
| ENST00000696767.1:n.1028T= | ||
| ENST00000696768.1:c.*17T= | ENSP00000512859.1:n.*17T= | |
| ENST00000696769.1:n.2383T= | ||
| ENST00000696771.1:c.-24T= | ENSP00000512860.1:n.-24T= | |
| ENST00000696772.1:n.2297T= | ||
| ENST00000696773.1:n.2036T= | ||
| ENST00000696774.1:n.5804T= | ||
| ENST00000696776.1:c.787T= | ENSP00000512861.1:p.Tyr263= | |
| ENST00000696777.1:n.2102T= | ||
| ENST00000696778.1:n.1130T= | ||
| ENST00000696779.1:c.301T= | ENSP00000512862.1:p.Tyr101= | |
| ENST00000696780.1:c.724T= | ENSP00000512863.1:p.Tyr242= | |
| ENST00000696781.1:c.439T= | ENSP00000512864.1:p.Tyr147= | |
| ENST00000696782.1:c.*96T= | ENSP00000512865.1:n.*96T= | |
| ENST00000696783.1:n.2562T= | ||
| ENST00000696992.1:n.1811T= | ||
| ENST00000696995.1:n.4223T= | ||
| ENST00000696996.1:n.2136T= | ||
| ENST00000696997.1:c.*324T= | ENSP00000513028.1:n.*324T= | |
| ENST00000696998.1:n.1948T= | ||
| ENST00000696999.1:c.-24T= | ENSP00000513029.1:n.-24T= | |
| ENST00000697035.1:c.*27T= | ENSP00000513059.1:n.*27T= | |
| ENST00000697036.1:c.*110T= | ENSP00000513060.1:n.*110T= | |
| ENST00000697037.1:n.729T= | ||
| ENST00000697093.1:n.2930T= | ||
| ENST00000697094.1:n.3277T= | ||
| ENST00000697095.1:c.*1895T= | ENSP00000513104.1:n.*1895T= | |
| ENST00000697096.1:n.1827T= | ||
| ENST00000697097.1:c.-24T= | ENSP00000513105.1:n.-24T= | |
| ENST00000562983.2:n.880T= | ||
| ENST00000690268.1:c.775T= | ENSP00000509810.1:p.Tyr259= | |
| ENST00000355740.7:c.*20T= | ENSP00000347979.3:n.*20T= | |
| ENST00000612663.5:c.*96T= | ENSP00000477997.3:n.*96T= | |
| ENST00000640140.1:n.866T= | ||
| ENST00000640250.1:n.193T= | ||
| ENST00000640681.1:n.815T= | ||
| ENST00000652046.1:c.694T= MANE Select | ENSP00000498466.1:p.Tyr232= | |
| ENST00000313771.9:n.1003T= | ||
| ENST00000352159.8:c.*11T= | ENSP00000345601.4:n.*11T= | |
| ENST00000355279.2:c.669T= | ENSP00000347426.2:n.669T= | |
| ENST00000355740.6:c.694T= | ENSP00000347979.2:p.Tyr232= | |
| ENST00000357339.6:c.631T= | ENSP00000349896.2:p.Tyr211= | |
| ENST00000479522.5:c.*123T= | ENSP00000424113.1:n.*123T= | |
| ENST00000484444.5:c.*135T= | ENSP00000420975.1:n.*135T= | |
| ENST00000488877.5:c.*135T= | ENSP00000425159.1:n.*135T= | |
| ENST00000492756.5:c.522T= | ENSP00000422453.1:n.522T= | |
| ENST00000494410.5:c.*52T= | ENSP00000423755.1:n.*52T= | |
| ENST00000494799.5:n.601T= | ||
| ENST00000612663.4:c.*41T= | ENSP00000477997.2:n.*41T= | |
| ENST00000615406.4:c.694T= | ENSP00000484575.1:p.Tyr232= | |
| ENST00000626542.2:c.694T= | ENSP00000485876.1:p.Tyr232= | |
| NM_000043.4:c.694T= , LRG_134t1:c.694T= | NP_000034.1:p.Tyr232= | |
| NM_152871.2:c.631T= | NP_690610.1:p.Tyr211= | |
| NM_152872.2:c.*6T= | NP_690611.1:n.*6T= | |
| NR_028033.2:n.868T= | ||
| NR_028034.2:n.730T= | ||
| NR_028035.2:n.793T= | ||
| NR_028036.2:n.931T= | ||
| XM_006717819.2:c.775T= | XP_006717882.1:p.Tyr259= | |
| XM_011539764.1:c.856T= | XP_011538066.1:p.Tyr286= | |
| XM_011539765.1:c.793T= | XP_011538067.1:p.Tyr265= | |
| XM_011539766.1:c.775T= | XP_011538068.1:p.Tyr259= | |
| XM_011539767.1:c.739T= | XP_011538069.1:p.Tyr247= | |
| XR_945732.1:n.762T= | ||
| XR_945733.1:n.699T= | ||
| NM_000043.5:c.694T= | NP_000034.1:p.Tyr232= | |
| NM_001320619.1:c.*17T= | NP_001307548.1:n.*17T= | |
| NM_152871.3:c.631T= | NP_690610.1:p.Tyr211= | |
| NM_152872.3:c.*6T= | NP_690611.1:n.*6T= | |
| NR_028033.3:n.840T= | ||
| NR_028034.3:n.702T= | ||
| NR_028035.3:n.765T= | ||
| NR_028036.3:n.903T= | ||
| NR_135313.1:n.820T= | ||
| NR_135314.1:n.1003T= | ||
| NR_135315.1:n.756T= | ||
| XM_006717819.3:c.775T= | XP_006717882.1:p.Tyr259= | |
| XM_011539764.2:c.856T= | XP_011538066.1:p.Tyr286= | |
| XM_011539765.2:c.793T= | XP_011538067.1:p.Tyr265= | |
| XM_011539766.2:c.775T= | XP_011538068.1:p.Tyr259= | |
| XM_011539767.3:c.739T= | XP_011538069.1:p.Tyr247= | |
| XR_945732.3:n.762T= | ||
| XR_945733.2:n.699T= | ||
| NM_000043.6:c.694T= MANE Select | NP_000034.1:p.Tyr232= | |
| NM_001320619.2:c.*17T= | NP_001307548.1:n.*17T= | |
| NM_152871.4:c.631T= | NP_690610.1:p.Tyr211= | |
| NM_152872.4:c.*6T= | NP_690611.1:n.*6T= | |
| NR_028033.4:n.601T= | ||
| NR_028034.4:n.463T= | ||
| NR_028035.4:n.526T= | ||
| NR_028036.4:n.664T= | ||
| NR_135313.2:n.581T= | ||
| NR_135314.2:n.860T= | ||
| NR_135315.2:n.613T= |