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.89014259C= , CM000672.2:g.89014259C= | GRCh38 |
| NC_000010.10:g.90774016C= , CM000672.1:g.90774016C= | GRCh37 |
| NC_000010.9:g.90763996C= | NCBI36 |
| NG_009089.2:g.28729C= , LRG_134:g.28729C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1126C= | ||
| ENST00000355740.8:c.*140C= | ENSP00000347979.3:n.*140C= | |
| ENST00000357339.7:c.754C= | ENSP00000349896.2:p.Gln252= | |
| ENST00000371857.8:n.2362C= | ||
| ENST00000460510.6:c.100C= | ENSP00000512812.1:p.Gln34= | |
| ENST00000466081.6:n.2466C= | ||
| ENST00000477270.6:c.862C= | ENSP00000512813.1:p.Gln288= | |
| ENST00000479522.6:c.*246C= | ENSP00000424113.1:n.*246C= | |
| ENST00000484444.6:c.*258C= | ENSP00000420975.1:n.*258C= | |
| ENST00000488877.6:c.708C= | ENSP00000425159.1:n.708C= | |
| ENST00000492756.7:c.*246C= | ENSP00000422453.1:n.*246C= | |
| ENST00000494799.6:c.100C= | ENSP00000512834.1:p.Gln34= | |
| ENST00000562983.3:c.100C= | ENSP00000512845.1:p.Gln34= | |
| ENST00000612663.6:c.*219C= | ENSP00000477997.3:n.*219C= | |
| ENST00000640140.2:n.962C= | ||
| ENST00000640250.2:n.316C= | ||
| ENST00000640681.2:n.921C= | ||
| ENST00000696723.1:n.4450C= | ||
| ENST00000696741.1:n.2455C= | ||
| ENST00000696742.1:n.2182C= | ||
| ENST00000696743.1:n.3585C= | ||
| ENST00000696744.1:n.856C= | ||
| ENST00000696767.1:n.1151C= | ||
| ENST00000696768.1:c.*140C= | ENSP00000512859.1:n.*140C= | |
| ENST00000696769.1:n.2506C= | ||
| ENST00000696771.1:c.100C= | ENSP00000512860.1:p.Gln34= | |
| ENST00000696772.1:n.2420C= | ||
| ENST00000696773.1:n.2159C= | ||
| ENST00000696774.1:n.5927C= | ||
| ENST00000696776.1:c.910C= | ENSP00000512861.1:p.Gln304= | |
| ENST00000696777.1:n.2225C= | ||
| ENST00000696778.1:n.1253C= | ||
| ENST00000696779.1:c.424C= | ENSP00000512862.1:p.Gln142= | |
| ENST00000696780.1:c.847C= | ENSP00000512863.1:p.Gln283= | |
| ENST00000696781.1:c.562C= | ENSP00000512864.1:p.Gln188= | |
| ENST00000696782.1:c.*219C= | ENSP00000512865.1:n.*219C= | |
| ENST00000696783.1:n.2685C= | ||
| ENST00000696992.1:n.1934C= | ||
| ENST00000696995.1:n.4346C= | ||
| ENST00000696996.1:n.2259C= | ||
| ENST00000696997.1:c.*447C= | ENSP00000513028.1:n.*447C= | |
| ENST00000696998.1:n.2071C= | ||
| ENST00000696999.1:c.100C= | ENSP00000513029.1:p.Gln34= | |
| ENST00000697035.1:c.*150C= | ENSP00000513059.1:n.*150C= | |
| ENST00000697036.1:c.*233C= | ENSP00000513060.1:n.*233C= | |
| ENST00000697037.1:n.852C= | ||
| ENST00000697093.1:n.3053C= | ||
| ENST00000697094.1:n.3400C= | ||
| ENST00000697095.1:c.*2018C= | ENSP00000513104.1:n.*2018C= | |
| ENST00000697096.1:n.1950C= | ||
| ENST00000697097.1:c.100C= | ENSP00000513105.1:p.Gln34= | |
| ENST00000562983.2:n.1003C= | ||
| ENST00000690268.1:c.898C= | ENSP00000509810.1:p.Gln300= | |
| ENST00000355740.7:c.*143C= | ENSP00000347979.3:n.*143C= | |
| ENST00000612663.5:c.*219C= | ENSP00000477997.3:n.*219C= | |
| ENST00000640140.1:n.989C= | ||
| ENST00000640250.1:n.316C= | ||
| ENST00000640681.1:n.938C= | ||
| ENST00000652046.1:c.817C= MANE Select | ENSP00000498466.1:p.Gln273= | |
| ENST00000352159.8:c.*134C= | ENSP00000345601.4:n.*134C= | |
| ENST00000355279.2:c.792C= | ENSP00000347426.2:n.792C= | |
| ENST00000355740.6:c.817C= | ENSP00000347979.2:p.Gln273= | |
| ENST00000357339.6:c.754C= | ENSP00000349896.2:p.Gln252= | |
| ENST00000479522.5:c.*246C= | ENSP00000424113.1:n.*246C= | |
| ENST00000484444.5:c.*258C= | ENSP00000420975.1:n.*258C= | |
| ENST00000488877.5:c.*258C= | ENSP00000425159.1:n.*258C= | |
| ENST00000492756.5:c.645C= | ENSP00000422453.1:n.645C= | |
| ENST00000494410.5:c.*175C= | ENSP00000423755.1:n.*175C= | |
| ENST00000612663.4:c.*164C= | ENSP00000477997.2:n.*164C= | |
| NM_000043.4:c.817C= , LRG_134t1:c.817C= | NP_000034.1:p.Gln273= | |
| NM_152871.2:c.754C= | NP_690610.1:p.Gln252= | |
| NM_152872.2:c.*129C= | NP_690611.1:n.*129C= | |
| NR_028033.2:n.991C= | ||
| NR_028034.2:n.853C= | ||
| NR_028035.2:n.916C= | ||
| NR_028036.2:n.1054C= | ||
| XM_006717819.2:c.898C= | XP_006717882.1:p.Gln300= | |
| XM_011539764.1:c.979C= | XP_011538066.1:p.Gln327= | |
| XM_011539765.1:c.916C= | XP_011538067.1:p.Gln306= | |
| XM_011539766.1:c.898C= | XP_011538068.1:p.Gln300= | |
| XM_011539767.1:c.862C= | XP_011538069.1:p.Gln288= | |
| XR_945732.1:n.885C= | ||
| XR_945733.1:n.822C= | ||
| NM_000043.5:c.817C= | NP_000034.1:p.Gln273= | |
| NM_001320619.1:c.*140C= | NP_001307548.1:n.*140C= | |
| NM_152871.3:c.754C= | NP_690610.1:p.Gln252= | |
| NM_152872.3:c.*129C= | NP_690611.1:n.*129C= | |
| NR_028033.3:n.963C= | ||
| NR_028034.3:n.825C= | ||
| NR_028035.3:n.888C= | ||
| NR_028036.3:n.1026C= | ||
| NR_135313.1:n.943C= | ||
| NR_135314.1:n.1126C= | ||
| NR_135315.1:n.879C= | ||
| XM_006717819.3:c.898C= | XP_006717882.1:p.Gln300= | |
| XM_011539764.2:c.979C= | XP_011538066.1:p.Gln327= | |
| XM_011539765.2:c.916C= | XP_011538067.1:p.Gln306= | |
| XM_011539766.2:c.898C= | XP_011538068.1:p.Gln300= | |
| XM_011539767.3:c.862C= | XP_011538069.1:p.Gln288= | |
| XR_945732.3:n.885C= | ||
| XR_945733.2:n.822C= | ||
| NM_000043.6:c.817C= MANE Select | NP_000034.1:p.Gln273= | |
| NM_001320619.2:c.*140C= | NP_001307548.1:n.*140C= | |
| NM_152871.4:c.754C= | NP_690610.1:p.Gln252= | |
| NM_152872.4:c.*129C= | NP_690611.1:n.*129C= | |
| NR_028033.4:n.724C= | ||
| NR_028034.4:n.586C= | ||
| NR_028035.4:n.649C= | ||
| NR_028036.4:n.787C= | ||
| NR_135313.2:n.704C= | ||
| NR_135314.2:n.983C= | ||
| NR_135315.2:n.736C= |