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.89014195G= , CM000672.2:g.89014195G= | GRCh38 |
| NC_000010.10:g.90773952G= , CM000672.1:g.90773952G= | GRCh37 |
| NC_000010.9:g.90763932G= | NCBI36 |
| NG_009089.2:g.28665G= , LRG_134:g.28665G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1062G= | ||
| ENST00000355740.8:c.*76G= | ENSP00000347979.3:n.*76G= | |
| ENST00000357339.7:c.690G= | ENSP00000349896.2:p.Lys230= | |
| ENST00000371857.8:n.2298G= | ||
| ENST00000460510.6:c.36G= | ENSP00000512812.1:p.Lys12= | |
| ENST00000466081.6:n.2402G= | ||
| ENST00000477270.6:c.798G= | ENSP00000512813.1:p.Lys266= | |
| ENST00000479522.6:c.*182G= | ENSP00000424113.1:n.*182G= | |
| ENST00000484444.6:c.*194G= | ENSP00000420975.1:n.*194G= | |
| ENST00000488877.6:c.644G= | ENSP00000425159.1:n.644G= | |
| ENST00000492756.7:c.*182G= | ENSP00000422453.1:n.*182G= | |
| ENST00000494799.6:c.36G= | ENSP00000512834.1:p.Lys12= | |
| ENST00000562983.3:c.36G= | ENSP00000512845.1:p.Lys12= | |
| ENST00000612663.6:c.*155G= | ENSP00000477997.3:n.*155G= | |
| ENST00000640140.2:n.898G= | ||
| ENST00000640250.2:n.252G= | ||
| ENST00000640681.2:n.857G= | ||
| ENST00000696723.1:n.4386G= | ||
| ENST00000696741.1:n.2391G= | ||
| ENST00000696742.1:n.2118G= | ||
| ENST00000696743.1:n.3521G= | ||
| ENST00000696744.1:n.792G= | ||
| ENST00000696767.1:n.1087G= | ||
| ENST00000696768.1:c.*76G= | ENSP00000512859.1:n.*76G= | |
| ENST00000696769.1:n.2442G= | ||
| ENST00000696771.1:c.36G= | ENSP00000512860.1:p.Lys12= | |
| ENST00000696772.1:n.2356G= | ||
| ENST00000696773.1:n.2095G= | ||
| ENST00000696774.1:n.5863G= | ||
| ENST00000696776.1:c.846G= | ENSP00000512861.1:p.Lys282= | |
| ENST00000696777.1:n.2161G= | ||
| ENST00000696778.1:n.1189G= | ||
| ENST00000696779.1:c.360G= | ENSP00000512862.1:p.Lys120= | |
| ENST00000696780.1:c.783G= | ENSP00000512863.1:p.Lys261= | |
| ENST00000696781.1:c.498G= | ENSP00000512864.1:p.Lys166= | |
| ENST00000696782.1:c.*155G= | ENSP00000512865.1:n.*155G= | |
| ENST00000696783.1:n.2621G= | ||
| ENST00000696992.1:n.1870G= | ||
| ENST00000696995.1:n.4282G= | ||
| ENST00000696996.1:n.2195G= | ||
| ENST00000696997.1:c.*383G= | ENSP00000513028.1:n.*383G= | |
| ENST00000696998.1:n.2007G= | ||
| ENST00000696999.1:c.36G= | ENSP00000513029.1:p.Lys12= | |
| ENST00000697035.1:c.*86G= | ENSP00000513059.1:n.*86G= | |
| ENST00000697036.1:c.*169G= | ENSP00000513060.1:n.*169G= | |
| ENST00000697037.1:n.788G= | ||
| ENST00000697093.1:n.2989G= | ||
| ENST00000697094.1:n.3336G= | ||
| ENST00000697095.1:c.*1954G= | ENSP00000513104.1:n.*1954G= | |
| ENST00000697096.1:n.1886G= | ||
| ENST00000697097.1:c.36G= | ENSP00000513105.1:p.Lys12= | |
| ENST00000562983.2:n.939G= | ||
| ENST00000690268.1:c.834G= | ENSP00000509810.1:p.Lys278= | |
| ENST00000355740.7:c.*79G= | ENSP00000347979.3:n.*79G= | |
| ENST00000612663.5:c.*155G= | ENSP00000477997.3:n.*155G= | |
| ENST00000640140.1:n.925G= | ||
| ENST00000640250.1:n.252G= | ||
| ENST00000640681.1:n.874G= | ||
| ENST00000652046.1:c.753G= MANE Select | ENSP00000498466.1:p.Lys251= | |
| ENST00000352159.8:c.*70G= | ENSP00000345601.4:n.*70G= | |
| ENST00000355279.2:c.728G= | ENSP00000347426.2:n.728G= | |
| ENST00000355740.6:c.753G= | ENSP00000347979.2:p.Lys251= | |
| ENST00000357339.6:c.690G= | ENSP00000349896.2:p.Lys230= | |
| ENST00000479522.5:c.*182G= | ENSP00000424113.1:n.*182G= | |
| ENST00000484444.5:c.*194G= | ENSP00000420975.1:n.*194G= | |
| ENST00000488877.5:c.*194G= | ENSP00000425159.1:n.*194G= | |
| ENST00000492756.5:c.581G= | ENSP00000422453.1:n.581G= | |
| ENST00000494410.5:c.*111G= | ENSP00000423755.1:n.*111G= | |
| ENST00000494799.5:n.660G= | ||
| ENST00000612663.4:c.*100G= | ENSP00000477997.2:n.*100G= | |
| ENST00000615406.4:c.751G= | ENSP00000484575.1:p.Glu251= | |
| NM_000043.4:c.753G= , LRG_134t1:c.753G= | NP_000034.1:p.Lys251= | |
| NM_152871.2:c.690G= | NP_690610.1:p.Lys230= | |
| NM_152872.2:c.*65G= | NP_690611.1:n.*65G= | |
| NR_028033.2:n.927G= | ||
| NR_028034.2:n.789G= | ||
| NR_028035.2:n.852G= | ||
| NR_028036.2:n.990G= | ||
| XM_006717819.2:c.834G= | XP_006717882.1:p.Lys278= | |
| XM_011539764.1:c.915G= | XP_011538066.1:p.Lys305= | |
| XM_011539765.1:c.852G= | XP_011538067.1:p.Lys284= | |
| XM_011539766.1:c.834G= | XP_011538068.1:p.Lys278= | |
| XM_011539767.1:c.798G= | XP_011538069.1:p.Lys266= | |
| XR_945732.1:n.821G= | ||
| XR_945733.1:n.758G= | ||
| NM_000043.5:c.753G= | NP_000034.1:p.Lys251= | |
| NM_001320619.1:c.*76G= | NP_001307548.1:n.*76G= | |
| NM_152871.3:c.690G= | NP_690610.1:p.Lys230= | |
| NM_152872.3:c.*65G= | NP_690611.1:n.*65G= | |
| NR_028033.3:n.899G= | ||
| NR_028034.3:n.761G= | ||
| NR_028035.3:n.824G= | ||
| NR_028036.3:n.962G= | ||
| NR_135313.1:n.879G= | ||
| NR_135314.1:n.1062G= | ||
| NR_135315.1:n.815G= | ||
| XM_006717819.3:c.834G= | XP_006717882.1:p.Lys278= | |
| XM_011539764.2:c.915G= | XP_011538066.1:p.Lys305= | |
| XM_011539765.2:c.852G= | XP_011538067.1:p.Lys284= | |
| XM_011539766.2:c.834G= | XP_011538068.1:p.Lys278= | |
| XM_011539767.3:c.798G= | XP_011538069.1:p.Lys266= | |
| XR_945732.3:n.821G= | ||
| XR_945733.2:n.758G= | ||
| NM_000043.6:c.753G= MANE Select | NP_000034.1:p.Lys251= | |
| NM_001320619.2:c.*76G= | NP_001307548.1:n.*76G= | |
| NM_152871.4:c.690G= | NP_690610.1:p.Lys230= | |
| NM_152872.4:c.*65G= | NP_690611.1:n.*65G= | |
| NR_028033.4:n.660G= | ||
| NR_028034.4:n.522G= | ||
| NR_028035.4:n.585G= | ||
| NR_028036.4:n.723G= | ||
| NR_135313.2:n.640G= | ||
| NR_135314.2:n.919G= | ||
| NR_135315.2:n.672G= |