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.89014267T= , CM000672.2:g.89014267T= | GRCh38 |
| NC_000010.10:g.90774024T= , CM000672.1:g.90774024T= | GRCh37 |
| NC_000010.9:g.90764004T= | NCBI36 |
| NG_009089.2:g.28737T= , LRG_134:g.28737T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1134T= | ||
| ENST00000355740.8:c.*148T= | ENSP00000347979.3:n.*148T= | |
| ENST00000357339.7:c.762T= | ENSP00000349896.2:p.Val254= | |
| ENST00000371857.8:n.2370T= | ||
| ENST00000460510.6:c.108T= | ENSP00000512812.1:p.Val36= | |
| ENST00000466081.6:n.2474T= | ||
| ENST00000477270.6:c.870T= | ENSP00000512813.1:p.Val290= | |
| ENST00000479522.6:c.*254T= | ENSP00000424113.1:n.*254T= | |
| ENST00000484444.6:c.*266T= | ENSP00000420975.1:n.*266T= | |
| ENST00000488877.6:c.716T= | ENSP00000425159.1:n.716T= | |
| ENST00000492756.7:c.*254T= | ENSP00000422453.1:n.*254T= | |
| ENST00000494799.6:c.108T= | ENSP00000512834.1:p.Val36= | |
| ENST00000562983.3:c.108T= | ENSP00000512845.1:p.Val36= | |
| ENST00000612663.6:c.*227T= | ENSP00000477997.3:n.*227T= | |
| ENST00000640140.2:n.970T= | ||
| ENST00000640250.2:n.324T= | ||
| ENST00000640681.2:n.929T= | ||
| ENST00000696723.1:n.4458T= | ||
| ENST00000696741.1:n.2463T= | ||
| ENST00000696742.1:n.2190T= | ||
| ENST00000696743.1:n.3593T= | ||
| ENST00000696744.1:n.864T= | ||
| ENST00000696767.1:n.1159T= | ||
| ENST00000696768.1:c.*148T= | ENSP00000512859.1:n.*148T= | |
| ENST00000696769.1:n.2514T= | ||
| ENST00000696771.1:c.108T= | ENSP00000512860.1:p.Val36= | |
| ENST00000696772.1:n.2428T= | ||
| ENST00000696773.1:n.2167T= | ||
| ENST00000696774.1:n.5935T= | ||
| ENST00000696776.1:c.918T= | ENSP00000512861.1:p.Val306= | |
| ENST00000696777.1:n.2233T= | ||
| ENST00000696778.1:n.1261T= | ||
| ENST00000696779.1:c.432T= | ENSP00000512862.1:p.Val144= | |
| ENST00000696780.1:c.855T= | ENSP00000512863.1:p.Val285= | |
| ENST00000696781.1:c.570T= | ENSP00000512864.1:p.Val190= | |
| ENST00000696782.1:c.*227T= | ENSP00000512865.1:n.*227T= | |
| ENST00000696783.1:n.2693T= | ||
| ENST00000696992.1:n.1942T= | ||
| ENST00000696995.1:n.4354T= | ||
| ENST00000696996.1:n.2267T= | ||
| ENST00000696997.1:c.*455T= | ENSP00000513028.1:n.*455T= | |
| ENST00000696998.1:n.2079T= | ||
| ENST00000696999.1:c.108T= | ENSP00000513029.1:p.Val36= | |
| ENST00000697035.1:c.*158T= | ENSP00000513059.1:n.*158T= | |
| ENST00000697036.1:c.*241T= | ENSP00000513060.1:n.*241T= | |
| ENST00000697037.1:n.860T= | ||
| ENST00000697093.1:n.3061T= | ||
| ENST00000697094.1:n.3408T= | ||
| ENST00000697095.1:c.*2026T= | ENSP00000513104.1:n.*2026T= | |
| ENST00000697096.1:n.1958T= | ||
| ENST00000697097.1:c.108T= | ENSP00000513105.1:p.Val36= | |
| ENST00000562983.2:n.1011T= | ||
| ENST00000690268.1:c.906T= | ENSP00000509810.1:p.Val302= | |
| ENST00000355740.7:c.*151T= | ENSP00000347979.3:n.*151T= | |
| ENST00000612663.5:c.*227T= | ENSP00000477997.3:n.*227T= | |
| ENST00000640140.1:n.997T= | ||
| ENST00000640250.1:n.324T= | ||
| ENST00000640681.1:n.946T= | ||
| ENST00000652046.1:c.825T= MANE Select | ENSP00000498466.1:p.Val275= | |
| ENST00000352159.8:c.*142T= | ENSP00000345601.4:n.*142T= | |
| ENST00000355279.2:c.800T= | ENSP00000347426.2:n.800T= | |
| ENST00000355740.6:c.825T= | ENSP00000347979.2:p.Val275= | |
| ENST00000357339.6:c.762T= | ENSP00000349896.2:p.Val254= | |
| ENST00000479522.5:c.*254T= | ENSP00000424113.1:n.*254T= | |
| ENST00000484444.5:c.*266T= | ENSP00000420975.1:n.*266T= | |
| ENST00000488877.5:c.*266T= | ENSP00000425159.1:n.*266T= | |
| ENST00000492756.5:c.653T= | ENSP00000422453.1:n.653T= | |
| ENST00000494410.5:c.*183T= | ENSP00000423755.1:n.*183T= | |
| ENST00000612663.4:c.*172T= | ENSP00000477997.2:n.*172T= | |
| NM_000043.4:c.825T= , LRG_134t1:c.825T= | NP_000034.1:p.Val275= | |
| NM_152871.2:c.762T= | NP_690610.1:p.Val254= | |
| NM_152872.2:c.*137T= | NP_690611.1:n.*137T= | |
| NR_028033.2:n.999T= | ||
| NR_028034.2:n.861T= | ||
| NR_028035.2:n.924T= | ||
| NR_028036.2:n.1062T= | ||
| XM_006717819.2:c.906T= | XP_006717882.1:p.Val302= | |
| XM_011539764.1:c.987T= | XP_011538066.1:p.Val329= | |
| XM_011539765.1:c.924T= | XP_011538067.1:p.Val308= | |
| XM_011539766.1:c.906T= | XP_011538068.1:p.Val302= | |
| XM_011539767.1:c.870T= | XP_011538069.1:p.Val290= | |
| XR_945732.1:n.893T= | ||
| XR_945733.1:n.830T= | ||
| NM_000043.5:c.825T= | NP_000034.1:p.Val275= | |
| NM_001320619.1:c.*148T= | NP_001307548.1:n.*148T= | |
| NM_152871.3:c.762T= | NP_690610.1:p.Val254= | |
| NM_152872.3:c.*137T= | NP_690611.1:n.*137T= | |
| NR_028033.3:n.971T= | ||
| NR_028034.3:n.833T= | ||
| NR_028035.3:n.896T= | ||
| NR_028036.3:n.1034T= | ||
| NR_135313.1:n.951T= | ||
| NR_135314.1:n.1134T= | ||
| NR_135315.1:n.887T= | ||
| XM_006717819.3:c.906T= | XP_006717882.1:p.Val302= | |
| XM_011539764.2:c.987T= | XP_011538066.1:p.Val329= | |
| XM_011539765.2:c.924T= | XP_011538067.1:p.Val308= | |
| XM_011539766.2:c.906T= | XP_011538068.1:p.Val302= | |
| XM_011539767.3:c.870T= | XP_011538069.1:p.Val290= | |
| XR_945732.3:n.893T= | ||
| XR_945733.2:n.830T= | ||
| NM_000043.6:c.825T= MANE Select | NP_000034.1:p.Val275= | |
| NM_001320619.2:c.*148T= | NP_001307548.1:n.*148T= | |
| NM_152871.4:c.762T= | NP_690610.1:p.Val254= | |
| NM_152872.4:c.*137T= | NP_690611.1:n.*137T= | |
| NR_028033.4:n.732T= | ||
| NR_028034.4:n.594T= | ||
| NR_028035.4:n.657T= | ||
| NR_028036.4:n.795T= | ||
| NR_135313.2:n.712T= | ||
| NR_135314.2:n.991T= | ||
| NR_135315.2:n.744T= |