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.89014334C= , CM000672.2:g.89014334C= | GRCh38 |
| NC_000010.10:g.90774091C= , CM000672.1:g.90774091C= | GRCh37 |
| NC_000010.9:g.90764071C= | NCBI36 |
| NG_009089.2:g.28804C= , LRG_134:g.28804C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1201C= | ||
| ENST00000355740.8:c.*215C= | ENSP00000347979.3:n.*215C= | |
| ENST00000357339.7:c.829C= | ENSP00000349896.2:p.Leu277= | |
| ENST00000371857.8:n.2437C= | ||
| ENST00000460510.6:c.175C= | ENSP00000512812.1:p.Leu59= | |
| ENST00000466081.6:n.2541C= | ||
| ENST00000477270.6:c.937C= | ENSP00000512813.1:p.Leu313= | |
| ENST00000479522.6:c.*321C= | ENSP00000424113.1:n.*321C= | |
| ENST00000484444.6:c.*333C= | ENSP00000420975.1:n.*333C= | |
| ENST00000488877.6:c.783C= | ENSP00000425159.1:n.783C= | |
| ENST00000492756.7:c.*321C= | ENSP00000422453.1:n.*321C= | |
| ENST00000494799.6:c.175C= | ENSP00000512834.1:p.Leu59= | |
| ENST00000562983.3:c.175C= | ENSP00000512845.1:p.Leu59= | |
| ENST00000612663.6:c.*294C= | ENSP00000477997.3:n.*294C= | |
| ENST00000640140.2:n.1037C= | ||
| ENST00000640250.2:n.391C= | ||
| ENST00000640681.2:n.996C= | ||
| ENST00000696723.1:n.4525C= | ||
| ENST00000696741.1:n.2530C= | ||
| ENST00000696742.1:n.2257C= | ||
| ENST00000696743.1:n.3660C= | ||
| ENST00000696744.1:n.931C= | ||
| ENST00000696767.1:n.1226C= | ||
| ENST00000696768.1:c.*215C= | ENSP00000512859.1:n.*215C= | |
| ENST00000696769.1:n.2581C= | ||
| ENST00000696771.1:c.175C= | ENSP00000512860.1:p.Leu59= | |
| ENST00000696772.1:n.2495C= | ||
| ENST00000696773.1:n.2234C= | ||
| ENST00000696774.1:n.6002C= | ||
| ENST00000696776.1:c.985C= | ENSP00000512861.1:p.Leu329= | |
| ENST00000696777.1:n.2300C= | ||
| ENST00000696778.1:n.1328C= | ||
| ENST00000696779.1:c.499C= | ENSP00000512862.1:p.Leu167= | |
| ENST00000696780.1:c.922C= | ENSP00000512863.1:p.Leu308= | |
| ENST00000696781.1:c.637C= | ENSP00000512864.1:p.Leu213= | |
| ENST00000696782.1:c.*294C= | ENSP00000512865.1:n.*294C= | |
| ENST00000696783.1:n.2760C= | ||
| ENST00000696992.1:n.2009C= | ||
| ENST00000696995.1:n.4421C= | ||
| ENST00000696996.1:n.2334C= | ||
| ENST00000696997.1:c.*522C= | ENSP00000513028.1:n.*522C= | |
| ENST00000696998.1:n.2146C= | ||
| ENST00000696999.1:c.175C= | ENSP00000513029.1:p.Leu59= | |
| ENST00000697036.1:c.*308C= | ENSP00000513060.1:n.*308C= | |
| ENST00000697037.1:n.927C= | ||
| ENST00000697093.1:n.3128C= | ||
| ENST00000697094.1:n.3475C= | ||
| ENST00000697095.1:c.*2093C= | ENSP00000513104.1:n.*2093C= | |
| ENST00000697096.1:n.2025C= | ||
| ENST00000697097.1:c.175C= | ENSP00000513105.1:p.Leu59= | |
| ENST00000562983.2:n.1078C= | ||
| ENST00000690268.1:c.973C= | ENSP00000509810.1:p.Leu325= | |
| ENST00000355740.7:c.*218C= | ENSP00000347979.3:n.*218C= | |
| ENST00000612663.5:c.*294C= | ENSP00000477997.3:n.*294C= | |
| ENST00000640140.1:n.1064C= | ||
| ENST00000640250.1:n.391C= | ||
| ENST00000640681.1:n.1013C= | ||
| ENST00000652046.1:c.892C= MANE Select | ENSP00000498466.1:p.Leu298= | |
| ENST00000352159.8:c.*209C= | ENSP00000345601.4:n.*209C= | |
| ENST00000355279.2:c.867C= | ENSP00000347426.2:n.867C= | |
| ENST00000355740.6:c.892C= | ENSP00000347979.2:p.Leu298= | |
| ENST00000357339.6:c.829C= | ENSP00000349896.2:p.Leu277= | |
| ENST00000479522.5:c.*321C= | ENSP00000424113.1:n.*321C= | |
| ENST00000484444.5:c.*333C= | ENSP00000420975.1:n.*333C= | |
| ENST00000488877.5:c.*333C= | ENSP00000425159.1:n.*333C= | |
| ENST00000492756.5:c.720C= | ENSP00000422453.1:n.720C= | |
| ENST00000494410.5:c.*250C= | ENSP00000423755.1:n.*250C= | |
| ENST00000612663.4:c.*239C= | ENSP00000477997.2:n.*239C= | |
| NM_000043.4:c.892C= , LRG_134t1:c.892C= | NP_000034.1:p.Leu298= | |
| NM_152871.2:c.829C= | NP_690610.1:p.Leu277= | |
| NM_152872.2:c.*204C= | NP_690611.1:n.*204C= | |
| NR_028033.2:n.1066C= | ||
| NR_028034.2:n.928C= | ||
| NR_028035.2:n.991C= | ||
| NR_028036.2:n.1129C= | ||
| XM_006717819.2:c.973C= | XP_006717882.1:p.Leu325= | |
| XM_011539764.1:c.1054C= | XP_011538066.1:p.Leu352= | |
| XM_011539765.1:c.991C= | XP_011538067.1:p.Leu331= | |
| XM_011539766.1:c.973C= | XP_011538068.1:p.Leu325= | |
| XM_011539767.1:c.937C= | XP_011538069.1:p.Leu313= | |
| XR_945732.1:n.960C= | ||
| XR_945733.1:n.897C= | ||
| NM_000043.5:c.892C= | NP_000034.1:p.Leu298= | |
| NM_001320619.1:c.*215C= | NP_001307548.1:n.*215C= | |
| NM_152871.3:c.829C= | NP_690610.1:p.Leu277= | |
| NM_152872.3:c.*204C= | NP_690611.1:n.*204C= | |
| NR_028033.3:n.1038C= | ||
| NR_028034.3:n.900C= | ||
| NR_028035.3:n.963C= | ||
| NR_028036.3:n.1101C= | ||
| NR_135313.1:n.1018C= | ||
| NR_135314.1:n.1201C= | ||
| NR_135315.1:n.954C= | ||
| XM_006717819.3:c.973C= | XP_006717882.1:p.Leu325= | |
| XM_011539764.2:c.1054C= | XP_011538066.1:p.Leu352= | |
| XM_011539765.2:c.991C= | XP_011538067.1:p.Leu331= | |
| XM_011539766.2:c.973C= | XP_011538068.1:p.Leu325= | |
| XM_011539767.3:c.937C= | XP_011538069.1:p.Leu313= | |
| XR_945732.3:n.960C= | ||
| XR_945733.2:n.897C= | ||
| NM_000043.6:c.892C= MANE Select | NP_000034.1:p.Leu298= | |
| NM_001320619.2:c.*215C= | NP_001307548.1:n.*215C= | |
| NM_152871.4:c.829C= | NP_690610.1:p.Leu277= | |
| NM_152872.4:c.*204C= | NP_690611.1:n.*204C= | |
| NR_028033.4:n.799C= | ||
| NR_028034.4:n.661C= | ||
| NR_028035.4:n.724C= | ||
| NR_028036.4:n.862C= | ||
| NR_135313.2:n.779C= | ||
| NR_135314.2:n.1058C= | ||
| NR_135315.2:n.811C= |