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.89014190C= , CM000672.2:g.89014190C= | GRCh38 |
| NC_000010.10:g.90773947C= , CM000672.1:g.90773947C= | GRCh37 |
| NC_000010.9:g.90763927C= | NCBI36 |
| NG_009089.2:g.28660C= , LRG_134:g.28660C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1057C= | ||
| ENST00000355740.8:c.*71C= | ENSP00000347979.3:n.*71C= | |
| ENST00000357339.7:c.685C= | ENSP00000349896.2:p.Arg229= | |
| ENST00000371857.8:n.2293C= | ||
| ENST00000460510.6:c.31C= | ENSP00000512812.1:p.Arg11= | |
| ENST00000466081.6:n.2397C= | ||
| ENST00000477270.6:c.793C= | ENSP00000512813.1:p.Arg265= | |
| ENST00000479522.6:c.*177C= | ENSP00000424113.1:n.*177C= | |
| ENST00000484444.6:c.*189C= | ENSP00000420975.1:n.*189C= | |
| ENST00000488877.6:c.639C= | ENSP00000425159.1:n.639C= | |
| ENST00000492756.7:c.*177C= | ENSP00000422453.1:n.*177C= | |
| ENST00000494799.6:c.31C= | ENSP00000512834.1:p.Arg11= | |
| ENST00000562983.3:c.31C= | ENSP00000512845.1:p.Arg11= | |
| ENST00000612663.6:c.*150C= | ENSP00000477997.3:n.*150C= | |
| ENST00000640140.2:n.893C= | ||
| ENST00000640250.2:n.247C= | ||
| ENST00000640681.2:n.852C= | ||
| ENST00000696723.1:n.4381C= | ||
| ENST00000696741.1:n.2386C= | ||
| ENST00000696742.1:n.2113C= | ||
| ENST00000696743.1:n.3516C= | ||
| ENST00000696744.1:n.787C= | ||
| ENST00000696767.1:n.1082C= | ||
| ENST00000696768.1:c.*71C= | ENSP00000512859.1:n.*71C= | |
| ENST00000696769.1:n.2437C= | ||
| ENST00000696771.1:c.31C= | ENSP00000512860.1:p.Arg11= | |
| ENST00000696772.1:n.2351C= | ||
| ENST00000696773.1:n.2090C= | ||
| ENST00000696774.1:n.5858C= | ||
| ENST00000696776.1:c.841C= | ENSP00000512861.1:p.Arg281= | |
| ENST00000696777.1:n.2156C= | ||
| ENST00000696778.1:n.1184C= | ||
| ENST00000696779.1:c.355C= | ENSP00000512862.1:p.Arg119= | |
| ENST00000696780.1:c.778C= | ENSP00000512863.1:p.Arg260= | |
| ENST00000696781.1:c.493C= | ENSP00000512864.1:p.Arg165= | |
| ENST00000696782.1:c.*150C= | ENSP00000512865.1:n.*150C= | |
| ENST00000696783.1:n.2616C= | ||
| ENST00000696992.1:n.1865C= | ||
| ENST00000696995.1:n.4277C= | ||
| ENST00000696996.1:n.2190C= | ||
| ENST00000696997.1:c.*378C= | ENSP00000513028.1:n.*378C= | |
| ENST00000696998.1:n.2002C= | ||
| ENST00000696999.1:c.31C= | ENSP00000513029.1:p.Arg11= | |
| ENST00000697035.1:c.*81C= | ENSP00000513059.1:n.*81C= | |
| ENST00000697036.1:c.*164C= | ENSP00000513060.1:n.*164C= | |
| ENST00000697037.1:n.783C= | ||
| ENST00000697093.1:n.2984C= | ||
| ENST00000697094.1:n.3331C= | ||
| ENST00000697095.1:c.*1949C= | ENSP00000513104.1:n.*1949C= | |
| ENST00000697096.1:n.1881C= | ||
| ENST00000697097.1:c.31C= | ENSP00000513105.1:p.Arg11= | |
| ENST00000562983.2:n.934C= | ||
| ENST00000690268.1:c.829C= | ENSP00000509810.1:p.Arg277= | |
| ENST00000355740.7:c.*74C= | ENSP00000347979.3:n.*74C= | |
| ENST00000612663.5:c.*150C= | ENSP00000477997.3:n.*150C= | |
| ENST00000640140.1:n.920C= | ||
| ENST00000640250.1:n.247C= | ||
| ENST00000640681.1:n.869C= | ||
| ENST00000652046.1:c.748C= MANE Select | ENSP00000498466.1:p.Arg250= | |
| ENST00000352159.8:c.*65C= | ENSP00000345601.4:n.*65C= | |
| ENST00000355279.2:c.723C= | ENSP00000347426.2:n.723C= | |
| ENST00000355740.6:c.748C= | ENSP00000347979.2:p.Arg250= | |
| ENST00000357339.6:c.685C= | ENSP00000349896.2:p.Arg229= | |
| ENST00000479522.5:c.*177C= | ENSP00000424113.1:n.*177C= | |
| ENST00000484444.5:c.*189C= | ENSP00000420975.1:n.*189C= | |
| ENST00000488877.5:c.*189C= | ENSP00000425159.1:n.*189C= | |
| ENST00000492756.5:c.576C= | ENSP00000422453.1:n.576C= | |
| ENST00000494410.5:c.*106C= | ENSP00000423755.1:n.*106C= | |
| ENST00000494799.5:n.655C= | ||
| ENST00000612663.4:c.*95C= | ENSP00000477997.2:n.*95C= | |
| ENST00000615406.4:c.748C= | ENSP00000484575.1:p.Arg250= | |
| NM_000043.4:c.748C= , LRG_134t1:c.748C= | NP_000034.1:p.Arg250= | |
| NM_152871.2:c.685C= | NP_690610.1:p.Arg229= | |
| NM_152872.2:c.*60C= | NP_690611.1:n.*60C= | |
| NR_028033.2:n.922C= | ||
| NR_028034.2:n.784C= | ||
| NR_028035.2:n.847C= | ||
| NR_028036.2:n.985C= | ||
| XM_006717819.2:c.829C= | XP_006717882.1:p.Arg277= | |
| XM_011539764.1:c.910C= | XP_011538066.1:p.Arg304= | |
| XM_011539765.1:c.847C= | XP_011538067.1:p.Arg283= | |
| XM_011539766.1:c.829C= | XP_011538068.1:p.Arg277= | |
| XM_011539767.1:c.793C= | XP_011538069.1:p.Arg265= | |
| XR_945732.1:n.816C= | ||
| XR_945733.1:n.753C= | ||
| NM_000043.5:c.748C= | NP_000034.1:p.Arg250= | |
| NM_001320619.1:c.*71C= | NP_001307548.1:n.*71C= | |
| NM_152871.3:c.685C= | NP_690610.1:p.Arg229= | |
| NM_152872.3:c.*60C= | NP_690611.1:n.*60C= | |
| NR_028033.3:n.894C= | ||
| NR_028034.3:n.756C= | ||
| NR_028035.3:n.819C= | ||
| NR_028036.3:n.957C= | ||
| NR_135313.1:n.874C= | ||
| NR_135314.1:n.1057C= | ||
| NR_135315.1:n.810C= | ||
| XM_006717819.3:c.829C= | XP_006717882.1:p.Arg277= | |
| XM_011539764.2:c.910C= | XP_011538066.1:p.Arg304= | |
| XM_011539765.2:c.847C= | XP_011538067.1:p.Arg283= | |
| XM_011539766.2:c.829C= | XP_011538068.1:p.Arg277= | |
| XM_011539767.3:c.793C= | XP_011538069.1:p.Arg265= | |
| XR_945732.3:n.816C= | ||
| XR_945733.2:n.753C= | ||
| NM_000043.6:c.748C= MANE Select | NP_000034.1:p.Arg250= | |
| NM_001320619.2:c.*71C= | NP_001307548.1:n.*71C= | |
| NM_152871.4:c.685C= | NP_690610.1:p.Arg229= | |
| NM_152872.4:c.*60C= | NP_690611.1:n.*60C= | |
| NR_028033.4:n.655C= | ||
| NR_028034.4:n.517C= | ||
| NR_028035.4:n.580C= | ||
| NR_028036.4:n.718C= | ||
| NR_135313.2:n.635C= | ||
| NR_135314.2:n.914C= | ||
| NR_135315.2:n.667C= |