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.89014249C= , CM000672.2:g.89014249C= | GRCh38 |
| NC_000010.10:g.90774006C= , CM000672.1:g.90774006C= | GRCh37 |
| NC_000010.9:g.90763986C= | NCBI36 |
| NG_009089.2:g.28719C= , LRG_134:g.28719C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1116C= | ||
| ENST00000355740.8:c.*130C= | ENSP00000347979.3:n.*130C= | |
| ENST00000357339.7:c.744C= | ENSP00000349896.2:p.Asp248= | |
| ENST00000371857.8:n.2352C= | ||
| ENST00000460510.6:c.90C= | ENSP00000512812.1:p.Asp30= | |
| ENST00000466081.6:n.2456C= | ||
| ENST00000477270.6:c.852C= | ENSP00000512813.1:p.Asp284= | |
| ENST00000479522.6:c.*236C= | ENSP00000424113.1:n.*236C= | |
| ENST00000484444.6:c.*248C= | ENSP00000420975.1:n.*248C= | |
| ENST00000488877.6:c.698C= | ENSP00000425159.1:n.698C= | |
| ENST00000492756.7:c.*236C= | ENSP00000422453.1:n.*236C= | |
| ENST00000494799.6:c.90C= | ENSP00000512834.1:p.Asp30= | |
| ENST00000562983.3:c.90C= | ENSP00000512845.1:p.Asp30= | |
| ENST00000612663.6:c.*209C= | ENSP00000477997.3:n.*209C= | |
| ENST00000640140.2:n.952C= | ||
| ENST00000640250.2:n.306C= | ||
| ENST00000640681.2:n.911C= | ||
| ENST00000696723.1:n.4440C= | ||
| ENST00000696741.1:n.2445C= | ||
| ENST00000696742.1:n.2172C= | ||
| ENST00000696743.1:n.3575C= | ||
| ENST00000696744.1:n.846C= | ||
| ENST00000696767.1:n.1141C= | ||
| ENST00000696768.1:c.*130C= | ENSP00000512859.1:n.*130C= | |
| ENST00000696769.1:n.2496C= | ||
| ENST00000696771.1:c.90C= | ENSP00000512860.1:p.Asp30= | |
| ENST00000696772.1:n.2410C= | ||
| ENST00000696773.1:n.2149C= | ||
| ENST00000696774.1:n.5917C= | ||
| ENST00000696776.1:c.900C= | ENSP00000512861.1:p.Asp300= | |
| ENST00000696777.1:n.2215C= | ||
| ENST00000696778.1:n.1243C= | ||
| ENST00000696779.1:c.414C= | ENSP00000512862.1:p.Asp138= | |
| ENST00000696780.1:c.837C= | ENSP00000512863.1:p.Asp279= | |
| ENST00000696781.1:c.552C= | ENSP00000512864.1:p.Asp184= | |
| ENST00000696782.1:c.*209C= | ENSP00000512865.1:n.*209C= | |
| ENST00000696783.1:n.2675C= | ||
| ENST00000696992.1:n.1924C= | ||
| ENST00000696995.1:n.4336C= | ||
| ENST00000696996.1:n.2249C= | ||
| ENST00000696997.1:c.*437C= | ENSP00000513028.1:n.*437C= | |
| ENST00000696998.1:n.2061C= | ||
| ENST00000696999.1:c.90C= | ENSP00000513029.1:p.Asp30= | |
| ENST00000697035.1:c.*140C= | ENSP00000513059.1:n.*140C= | |
| ENST00000697036.1:c.*223C= | ENSP00000513060.1:n.*223C= | |
| ENST00000697037.1:n.842C= | ||
| ENST00000697093.1:n.3043C= | ||
| ENST00000697094.1:n.3390C= | ||
| ENST00000697095.1:c.*2008C= | ENSP00000513104.1:n.*2008C= | |
| ENST00000697096.1:n.1940C= | ||
| ENST00000697097.1:c.90C= | ENSP00000513105.1:p.Asp30= | |
| ENST00000562983.2:n.993C= | ||
| ENST00000690268.1:c.888C= | ENSP00000509810.1:p.Asp296= | |
| ENST00000355740.7:c.*133C= | ENSP00000347979.3:n.*133C= | |
| ENST00000612663.5:c.*209C= | ENSP00000477997.3:n.*209C= | |
| ENST00000640140.1:n.979C= | ||
| ENST00000640250.1:n.306C= | ||
| ENST00000640681.1:n.928C= | ||
| ENST00000652046.1:c.807C= MANE Select | ENSP00000498466.1:p.Asp269= | |
| ENST00000352159.8:c.*124C= | ENSP00000345601.4:n.*124C= | |
| ENST00000355279.2:c.782C= | ENSP00000347426.2:n.782C= | |
| ENST00000355740.6:c.807C= | ENSP00000347979.2:p.Asp269= | |
| ENST00000357339.6:c.744C= | ENSP00000349896.2:p.Asp248= | |
| ENST00000479522.5:c.*236C= | ENSP00000424113.1:n.*236C= | |
| ENST00000484444.5:c.*248C= | ENSP00000420975.1:n.*248C= | |
| ENST00000488877.5:c.*248C= | ENSP00000425159.1:n.*248C= | |
| ENST00000492756.5:c.635C= | ENSP00000422453.1:n.635C= | |
| ENST00000494410.5:c.*165C= | ENSP00000423755.1:n.*165C= | |
| ENST00000612663.4:c.*154C= | ENSP00000477997.2:n.*154C= | |
| NM_000043.4:c.807C= , LRG_134t1:c.807C= | NP_000034.1:p.Asp269= | |
| NM_152871.2:c.744C= | NP_690610.1:p.Asp248= | |
| NM_152872.2:c.*119C= | NP_690611.1:n.*119C= | |
| NR_028033.2:n.981C= | ||
| NR_028034.2:n.843C= | ||
| NR_028035.2:n.906C= | ||
| NR_028036.2:n.1044C= | ||
| XM_006717819.2:c.888C= | XP_006717882.1:p.Asp296= | |
| XM_011539764.1:c.969C= | XP_011538066.1:p.Asp323= | |
| XM_011539765.1:c.906C= | XP_011538067.1:p.Asp302= | |
| XM_011539766.1:c.888C= | XP_011538068.1:p.Asp296= | |
| XM_011539767.1:c.852C= | XP_011538069.1:p.Asp284= | |
| XR_945732.1:n.875C= | ||
| XR_945733.1:n.812C= | ||
| NM_000043.5:c.807C= | NP_000034.1:p.Asp269= | |
| NM_001320619.1:c.*130C= | NP_001307548.1:n.*130C= | |
| NM_152871.3:c.744C= | NP_690610.1:p.Asp248= | |
| NM_152872.3:c.*119C= | NP_690611.1:n.*119C= | |
| NR_028033.3:n.953C= | ||
| NR_028034.3:n.815C= | ||
| NR_028035.3:n.878C= | ||
| NR_028036.3:n.1016C= | ||
| NR_135313.1:n.933C= | ||
| NR_135314.1:n.1116C= | ||
| NR_135315.1:n.869C= | ||
| XM_006717819.3:c.888C= | XP_006717882.1:p.Asp296= | |
| XM_011539764.2:c.969C= | XP_011538066.1:p.Asp323= | |
| XM_011539765.2:c.906C= | XP_011538067.1:p.Asp302= | |
| XM_011539766.2:c.888C= | XP_011538068.1:p.Asp296= | |
| XM_011539767.3:c.852C= | XP_011538069.1:p.Asp284= | |
| XR_945732.3:n.875C= | ||
| XR_945733.2:n.812C= | ||
| NM_000043.6:c.807C= MANE Select | NP_000034.1:p.Asp269= | |
| NM_001320619.2:c.*130C= | NP_001307548.1:n.*130C= | |
| NM_152871.4:c.744C= | NP_690610.1:p.Asp248= | |
| NM_152872.4:c.*119C= | NP_690611.1:n.*119C= | |
| NR_028033.4:n.714C= | ||
| NR_028034.4:n.576C= | ||
| NR_028035.4:n.639C= | ||
| NR_028036.4:n.777C= | ||
| NR_135313.2:n.694C= | ||
| NR_135314.2:n.973C= | ||
| NR_135315.2:n.726C= |