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.89014260A= , CM000672.2:g.89014260A= | GRCh38 |
| NC_000010.10:g.90774017A= , CM000672.1:g.90774017A= | GRCh37 |
| NC_000010.9:g.90763997A= | NCBI36 |
| NG_009089.2:g.28730A= , LRG_134:g.28730A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1127A= | ||
| ENST00000355740.8:c.*141A= | ENSP00000347979.3:n.*141A= | |
| ENST00000357339.7:c.755A= | ENSP00000349896.2:p.Gln252= | |
| ENST00000371857.8:n.2363A= | ||
| ENST00000460510.6:c.101A= | ENSP00000512812.1:p.Gln34= | |
| ENST00000466081.6:n.2467A= | ||
| ENST00000477270.6:c.863A= | ENSP00000512813.1:p.Gln288= | |
| ENST00000479522.6:c.*247A= | ENSP00000424113.1:n.*247A= | |
| ENST00000484444.6:c.*259A= | ENSP00000420975.1:n.*259A= | |
| ENST00000488877.6:c.709A= | ENSP00000425159.1:n.709A= | |
| ENST00000492756.7:c.*247A= | ENSP00000422453.1:n.*247A= | |
| ENST00000494799.6:c.101A= | ENSP00000512834.1:p.Gln34= | |
| ENST00000562983.3:c.101A= | ENSP00000512845.1:p.Gln34= | |
| ENST00000612663.6:c.*220A= | ENSP00000477997.3:n.*220A= | |
| ENST00000640140.2:n.963A= | ||
| ENST00000640250.2:n.317A= | ||
| ENST00000640681.2:n.922A= | ||
| ENST00000696723.1:n.4451A= | ||
| ENST00000696741.1:n.2456A= | ||
| ENST00000696742.1:n.2183A= | ||
| ENST00000696743.1:n.3586A= | ||
| ENST00000696744.1:n.857A= | ||
| ENST00000696767.1:n.1152A= | ||
| ENST00000696768.1:c.*141A= | ENSP00000512859.1:n.*141A= | |
| ENST00000696769.1:n.2507A= | ||
| ENST00000696771.1:c.101A= | ENSP00000512860.1:p.Gln34= | |
| ENST00000696772.1:n.2421A= | ||
| ENST00000696773.1:n.2160A= | ||
| ENST00000696774.1:n.5928A= | ||
| ENST00000696776.1:c.911A= | ENSP00000512861.1:p.Gln304= | |
| ENST00000696777.1:n.2226A= | ||
| ENST00000696778.1:n.1254A= | ||
| ENST00000696779.1:c.425A= | ENSP00000512862.1:p.Gln142= | |
| ENST00000696780.1:c.848A= | ENSP00000512863.1:p.Gln283= | |
| ENST00000696781.1:c.563A= | ENSP00000512864.1:p.Gln188= | |
| ENST00000696782.1:c.*220A= | ENSP00000512865.1:n.*220A= | |
| ENST00000696783.1:n.2686A= | ||
| ENST00000696992.1:n.1935A= | ||
| ENST00000696995.1:n.4347A= | ||
| ENST00000696996.1:n.2260A= | ||
| ENST00000696997.1:c.*448A= | ENSP00000513028.1:n.*448A= | |
| ENST00000696998.1:n.2072A= | ||
| ENST00000696999.1:c.101A= | ENSP00000513029.1:p.Gln34= | |
| ENST00000697035.1:c.*151A= | ENSP00000513059.1:n.*151A= | |
| ENST00000697036.1:c.*234A= | ENSP00000513060.1:n.*234A= | |
| ENST00000697037.1:n.853A= | ||
| ENST00000697093.1:n.3054A= | ||
| ENST00000697094.1:n.3401A= | ||
| ENST00000697095.1:c.*2019A= | ENSP00000513104.1:n.*2019A= | |
| ENST00000697096.1:n.1951A= | ||
| ENST00000697097.1:c.101A= | ENSP00000513105.1:p.Gln34= | |
| ENST00000562983.2:n.1004A= | ||
| ENST00000690268.1:c.899A= | ENSP00000509810.1:p.Gln300= | |
| ENST00000355740.7:c.*144A= | ENSP00000347979.3:n.*144A= | |
| ENST00000612663.5:c.*220A= | ENSP00000477997.3:n.*220A= | |
| ENST00000640140.1:n.990A= | ||
| ENST00000640250.1:n.317A= | ||
| ENST00000640681.1:n.939A= | ||
| ENST00000652046.1:c.818A= MANE Select | ENSP00000498466.1:p.Gln273= | |
| ENST00000352159.8:c.*135A= | ENSP00000345601.4:n.*135A= | |
| ENST00000355279.2:c.793A= | ENSP00000347426.2:n.793A= | |
| ENST00000355740.6:c.818A= | ENSP00000347979.2:p.Gln273= | |
| ENST00000357339.6:c.755A= | ENSP00000349896.2:p.Gln252= | |
| ENST00000479522.5:c.*247A= | ENSP00000424113.1:n.*247A= | |
| ENST00000484444.5:c.*259A= | ENSP00000420975.1:n.*259A= | |
| ENST00000488877.5:c.*259A= | ENSP00000425159.1:n.*259A= | |
| ENST00000492756.5:c.646A= | ENSP00000422453.1:n.646A= | |
| ENST00000494410.5:c.*176A= | ENSP00000423755.1:n.*176A= | |
| ENST00000612663.4:c.*165A= | ENSP00000477997.2:n.*165A= | |
| NM_000043.4:c.818A= , LRG_134t1:c.818A= | NP_000034.1:p.Gln273= | |
| NM_152871.2:c.755A= | NP_690610.1:p.Gln252= | |
| NM_152872.2:c.*130A= | NP_690611.1:n.*130A= | |
| NR_028033.2:n.992A= | ||
| NR_028034.2:n.854A= | ||
| NR_028035.2:n.917A= | ||
| NR_028036.2:n.1055A= | ||
| XM_006717819.2:c.899A= | XP_006717882.1:p.Gln300= | |
| XM_011539764.1:c.980A= | XP_011538066.1:p.Gln327= | |
| XM_011539765.1:c.917A= | XP_011538067.1:p.Gln306= | |
| XM_011539766.1:c.899A= | XP_011538068.1:p.Gln300= | |
| XM_011539767.1:c.863A= | XP_011538069.1:p.Gln288= | |
| XR_945732.1:n.886A= | ||
| XR_945733.1:n.823A= | ||
| NM_000043.5:c.818A= | NP_000034.1:p.Gln273= | |
| NM_001320619.1:c.*141A= | NP_001307548.1:n.*141A= | |
| NM_152871.3:c.755A= | NP_690610.1:p.Gln252= | |
| NM_152872.3:c.*130A= | NP_690611.1:n.*130A= | |
| NR_028033.3:n.964A= | ||
| NR_028034.3:n.826A= | ||
| NR_028035.3:n.889A= | ||
| NR_028036.3:n.1027A= | ||
| NR_135313.1:n.944A= | ||
| NR_135314.1:n.1127A= | ||
| NR_135315.1:n.880A= | ||
| XM_006717819.3:c.899A= | XP_006717882.1:p.Gln300= | |
| XM_011539764.2:c.980A= | XP_011538066.1:p.Gln327= | |
| XM_011539765.2:c.917A= | XP_011538067.1:p.Gln306= | |
| XM_011539766.2:c.899A= | XP_011538068.1:p.Gln300= | |
| XM_011539767.3:c.863A= | XP_011538069.1:p.Gln288= | |
| XR_945732.3:n.886A= | ||
| XR_945733.2:n.823A= | ||
| NM_000043.6:c.818A= MANE Select | NP_000034.1:p.Gln273= | |
| NM_001320619.2:c.*141A= | NP_001307548.1:n.*141A= | |
| NM_152871.4:c.755A= | NP_690610.1:p.Gln252= | |
| NM_152872.4:c.*130A= | NP_690611.1:n.*130A= | |
| NR_028033.4:n.725A= | ||
| NR_028034.4:n.587A= | ||
| NR_028035.4:n.650A= | ||
| NR_028036.4:n.788A= | ||
| NR_135313.2:n.705A= | ||
| NR_135314.2:n.984A= | ||
| NR_135315.2:n.737A= |