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.89014157G= , CM000672.2:g.89014157G= | GRCh38 |
| NC_000010.10:g.90773914G= , CM000672.1:g.90773914G= | GRCh37 |
| NC_000010.9:g.90763894G= | NCBI36 |
| NG_009089.2:g.28627G= , LRG_134:g.28627G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1024G= | ||
| ENST00000355740.8:c.*38G= | ENSP00000347979.3:n.*38G= | |
| ENST00000357339.7:c.652G= | ENSP00000349896.2:p.Val218= | |
| ENST00000371857.8:n.2260G= | ||
| ENST00000460510.6:c.-3G= | ENSP00000512812.1:n.-3G= | |
| ENST00000466081.6:n.2364G= | ||
| ENST00000477270.6:c.760G= | ENSP00000512813.1:p.Val254= | |
| ENST00000479522.6:c.*144G= | ENSP00000424113.1:n.*144G= | |
| ENST00000484444.6:c.*156G= | ENSP00000420975.1:n.*156G= | |
| ENST00000488877.6:c.606G= | ENSP00000425159.1:n.606G= | |
| ENST00000492756.7:c.*144G= | ENSP00000422453.1:n.*144G= | |
| ENST00000494799.6:c.-3G= | ENSP00000512834.1:n.-3G= | |
| ENST00000562983.3:c.-3G= | ENSP00000512845.1:n.-3G= | |
| ENST00000612663.6:c.*117G= | ENSP00000477997.3:n.*117G= | |
| ENST00000640140.2:n.860G= | ||
| ENST00000640250.2:n.214G= | ||
| ENST00000640681.2:n.819G= | ||
| ENST00000696723.1:n.4348G= | ||
| ENST00000696741.1:n.2353G= | ||
| ENST00000696742.1:n.2080G= | ||
| ENST00000696743.1:n.3483G= | ||
| ENST00000696744.1:n.754G= | ||
| ENST00000696767.1:n.1049G= | ||
| ENST00000696768.1:c.*38G= | ENSP00000512859.1:n.*38G= | |
| ENST00000696769.1:n.2404G= | ||
| ENST00000696771.1:c.-3G= | ENSP00000512860.1:n.-3G= | |
| ENST00000696772.1:n.2318G= | ||
| ENST00000696773.1:n.2057G= | ||
| ENST00000696774.1:n.5825G= | ||
| ENST00000696776.1:c.808G= | ENSP00000512861.1:p.Val270= | |
| ENST00000696777.1:n.2123G= | ||
| ENST00000696778.1:n.1151G= | ||
| ENST00000696779.1:c.322G= | ENSP00000512862.1:p.Val108= | |
| ENST00000696780.1:c.745G= | ENSP00000512863.1:p.Val249= | |
| ENST00000696781.1:c.460G= | ENSP00000512864.1:p.Val154= | |
| ENST00000696782.1:c.*117G= | ENSP00000512865.1:n.*117G= | |
| ENST00000696783.1:n.2583G= | ||
| ENST00000696992.1:n.1832G= | ||
| ENST00000696995.1:n.4244G= | ||
| ENST00000696996.1:n.2157G= | ||
| ENST00000696997.1:c.*345G= | ENSP00000513028.1:n.*345G= | |
| ENST00000696998.1:n.1969G= | ||
| ENST00000696999.1:c.-3G= | ENSP00000513029.1:n.-3G= | |
| ENST00000697035.1:c.*48G= | ENSP00000513059.1:n.*48G= | |
| ENST00000697036.1:c.*131G= | ENSP00000513060.1:n.*131G= | |
| ENST00000697037.1:n.750G= | ||
| ENST00000697093.1:n.2951G= | ||
| ENST00000697094.1:n.3298G= | ||
| ENST00000697095.1:c.*1916G= | ENSP00000513104.1:n.*1916G= | |
| ENST00000697096.1:n.1848G= | ||
| ENST00000697097.1:c.-3G= | ENSP00000513105.1:n.-3G= | |
| ENST00000562983.2:n.901G= | ||
| ENST00000690268.1:c.796G= | ENSP00000509810.1:p.Val266= | |
| ENST00000355740.7:c.*41G= | ENSP00000347979.3:n.*41G= | |
| ENST00000612663.5:c.*117G= | ENSP00000477997.3:n.*117G= | |
| ENST00000640140.1:n.887G= | ||
| ENST00000640250.1:n.214G= | ||
| ENST00000640681.1:n.836G= | ||
| ENST00000652046.1:c.715G= MANE Select | ENSP00000498466.1:p.Val239= | |
| ENST00000313771.9:n.1024G= | ||
| ENST00000352159.8:c.*32G= | ENSP00000345601.4:n.*32G= | |
| ENST00000355279.2:c.690G= | ENSP00000347426.2:n.690G= | |
| ENST00000355740.6:c.715G= | ENSP00000347979.2:p.Val239= | |
| ENST00000357339.6:c.652G= | ENSP00000349896.2:p.Val218= | |
| ENST00000479522.5:c.*144G= | ENSP00000424113.1:n.*144G= | |
| ENST00000484444.5:c.*156G= | ENSP00000420975.1:n.*156G= | |
| ENST00000488877.5:c.*156G= | ENSP00000425159.1:n.*156G= | |
| ENST00000492756.5:c.543G= | ENSP00000422453.1:n.543G= | |
| ENST00000494410.5:c.*73G= | ENSP00000423755.1:n.*73G= | |
| ENST00000494799.5:n.622G= | ||
| ENST00000612663.4:c.*62G= | ENSP00000477997.2:n.*62G= | |
| ENST00000615406.4:c.715G= | ENSP00000484575.1:p.Val239= | |
| ENST00000626542.2:c.713G= | ENSP00000485876.1:p.Ser238= | |
| NM_000043.4:c.715G= , LRG_134t1:c.715G= | NP_000034.1:p.Val239= | |
| NM_152871.2:c.652G= | NP_690610.1:p.Val218= | |
| NM_152872.2:c.*27G= | NP_690611.1:n.*27G= | |
| NR_028033.2:n.889G= | ||
| NR_028034.2:n.751G= | ||
| NR_028035.2:n.814G= | ||
| NR_028036.2:n.952G= | ||
| XM_006717819.2:c.796G= | XP_006717882.1:p.Val266= | |
| XM_011539764.1:c.877G= | XP_011538066.1:p.Val293= | |
| XM_011539765.1:c.814G= | XP_011538067.1:p.Val272= | |
| XM_011539766.1:c.796G= | XP_011538068.1:p.Val266= | |
| XM_011539767.1:c.760G= | XP_011538069.1:p.Val254= | |
| XR_945732.1:n.783G= | ||
| XR_945733.1:n.720G= | ||
| NM_000043.5:c.715G= | NP_000034.1:p.Val239= | |
| NM_001320619.1:c.*38G= | NP_001307548.1:n.*38G= | |
| NM_152871.3:c.652G= | NP_690610.1:p.Val218= | |
| NM_152872.3:c.*27G= | NP_690611.1:n.*27G= | |
| NR_028033.3:n.861G= | ||
| NR_028034.3:n.723G= | ||
| NR_028035.3:n.786G= | ||
| NR_028036.3:n.924G= | ||
| NR_135313.1:n.841G= | ||
| NR_135314.1:n.1024G= | ||
| NR_135315.1:n.777G= | ||
| XM_006717819.3:c.796G= | XP_006717882.1:p.Val266= | |
| XM_011539764.2:c.877G= | XP_011538066.1:p.Val293= | |
| XM_011539765.2:c.814G= | XP_011538067.1:p.Val272= | |
| XM_011539766.2:c.796G= | XP_011538068.1:p.Val266= | |
| XM_011539767.3:c.760G= | XP_011538069.1:p.Val254= | |
| XR_945732.3:n.783G= | ||
| XR_945733.2:n.720G= | ||
| NM_000043.6:c.715G= MANE Select | NP_000034.1:p.Val239= | |
| NM_001320619.2:c.*38G= | NP_001307548.1:n.*38G= | |
| NM_152871.4:c.652G= | NP_690610.1:p.Val218= | |
| NM_152872.4:c.*27G= | NP_690611.1:n.*27G= | |
| NR_028033.4:n.622G= | ||
| NR_028034.4:n.484G= | ||
| NR_028035.4:n.547G= | ||
| NR_028036.4:n.685G= | ||
| NR_135313.2:n.602G= | ||
| NR_135314.2:n.881G= | ||
| NR_135315.2:n.634G= |