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.89014444G= , CM000672.2:g.89014444G= | GRCh38 |
| NC_000010.10:g.90774201G= , CM000672.1:g.90774201G= | GRCh37 |
| NC_000010.9:g.90764181G= | NCBI36 |
| NG_009089.2:g.28914G= , LRG_134:g.28914G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1311G= | ||
| ENST00000355740.8:c.*325G= | ENSP00000347979.3:n.*325G= | |
| ENST00000357339.7:c.939G= | ENSP00000349896.2:p.Leu313= | |
| ENST00000371857.8:n.2547G= | ||
| ENST00000460510.6:c.285G= | ENSP00000512812.1:p.Leu95= | |
| ENST00000466081.6:n.2651G= | ||
| ENST00000477270.6:c.1047G= | ENSP00000512813.1:p.Leu349= | |
| ENST00000479522.6:c.*431G= | ENSP00000424113.1:n.*431G= | |
| ENST00000484444.6:c.*443G= | ENSP00000420975.1:n.*443G= | |
| ENST00000488877.6:c.893G= | ENSP00000425159.1:n.893G= | |
| ENST00000492756.7:c.*431G= | ENSP00000422453.1:n.*431G= | |
| ENST00000494799.6:c.285G= | ENSP00000512834.1:p.Leu95= | |
| ENST00000562983.3:c.285G= | ENSP00000512845.1:p.Leu95= | |
| ENST00000612663.6:c.*404G= | ENSP00000477997.3:n.*404G= | |
| ENST00000640140.2:n.1147G= | ||
| ENST00000640250.2:n.501G= | ||
| ENST00000640681.2:n.1106G= | ||
| ENST00000696723.1:n.4635G= | ||
| ENST00000696741.1:n.2640G= | ||
| ENST00000696742.1:n.2367G= | ||
| ENST00000696743.1:n.3770G= | ||
| ENST00000696744.1:n.1041G= | ||
| ENST00000696767.1:n.1336G= | ||
| ENST00000696768.1:c.*325G= | ENSP00000512859.1:n.*325G= | |
| ENST00000696769.1:n.2691G= | ||
| ENST00000696771.1:c.285G= | ENSP00000512860.1:p.Leu95= | |
| ENST00000696772.1:n.2605G= | ||
| ENST00000696773.1:n.2344G= | ||
| ENST00000696774.1:n.6112G= | ||
| ENST00000696776.1:c.1095G= | ENSP00000512861.1:p.Leu365= | |
| ENST00000696777.1:n.2410G= | ||
| ENST00000696778.1:n.1438G= | ||
| ENST00000696779.1:c.609G= | ENSP00000512862.1:p.Leu203= | |
| ENST00000696780.1:c.1032G= | ENSP00000512863.1:p.Leu344= | |
| ENST00000696781.1:c.747G= | ENSP00000512864.1:p.Leu249= | |
| ENST00000696782.1:c.*404G= | ENSP00000512865.1:n.*404G= | |
| ENST00000696783.1:n.2870G= | ||
| ENST00000696992.1:n.2119G= | ||
| ENST00000696995.1:n.4531G= | ||
| ENST00000696996.1:n.2444G= | ||
| ENST00000696997.1:c.*632G= | ENSP00000513028.1:n.*632G= | |
| ENST00000696998.1:n.2256G= | ||
| ENST00000696999.1:c.285G= | ENSP00000513029.1:p.Leu95= | |
| ENST00000697036.1:c.*418G= | ENSP00000513060.1:n.*418G= | |
| ENST00000697037.1:n.1037G= | ||
| ENST00000697093.1:n.3238G= | ||
| ENST00000697094.1:n.3585G= | ||
| ENST00000697095.1:c.*2203G= | ENSP00000513104.1:n.*2203G= | |
| ENST00000697096.1:n.2135G= | ||
| ENST00000697097.1:c.285G= | ENSP00000513105.1:p.Leu95= | |
| ENST00000562983.2:n.1188G= | ||
| ENST00000690268.1:c.1083G= | ENSP00000509810.1:p.Leu361= | |
| ENST00000355740.7:c.*328G= | ENSP00000347979.3:n.*328G= | |
| ENST00000612663.5:c.*404G= | ENSP00000477997.3:n.*404G= | |
| ENST00000640140.1:n.1174G= | ||
| ENST00000640250.1:n.501G= | ||
| ENST00000640681.1:n.1123G= | ||
| ENST00000652046.1:c.1002G= MANE Select | ENSP00000498466.1:p.Leu334= | |
| ENST00000352159.8:c.*319G= | ENSP00000345601.4:n.*319G= | |
| ENST00000355279.2:c.977G= | ENSP00000347426.2:n.977G= | |
| ENST00000355740.6:c.1002G= | ENSP00000347979.2:p.Leu334= | |
| ENST00000357339.6:c.939G= | ENSP00000349896.2:p.Leu313= | |
| ENST00000479522.5:c.*431G= | ENSP00000424113.1:n.*431G= | |
| ENST00000484444.5:c.*443G= | ENSP00000420975.1:n.*443G= | |
| ENST00000488877.5:c.*443G= | ENSP00000425159.1:n.*443G= | |
| ENST00000492756.5:c.830G= | ENSP00000422453.1:n.830G= | |
| ENST00000494410.5:c.*360G= | ENSP00000423755.1:n.*360G= | |
| ENST00000612663.4:c.*349G= | ENSP00000477997.2:n.*349G= | |
| NM_000043.4:c.1002G= , LRG_134t1:c.1002G= | NP_000034.1:p.Leu334= | |
| NM_152871.2:c.939G= | NP_690610.1:p.Leu313= | |
| NM_152872.2:c.*314G= | NP_690611.1:n.*314G= | |
| NR_028033.2:n.1176G= | ||
| NR_028034.2:n.1038G= | ||
| NR_028035.2:n.1101G= | ||
| NR_028036.2:n.1239G= | ||
| XM_006717819.2:c.1083G= | XP_006717882.1:p.Leu361= | |
| XM_011539764.1:c.1164G= | XP_011538066.1:p.Leu388= | |
| XM_011539765.1:c.1101G= | XP_011538067.1:p.Leu367= | |
| XM_011539766.1:c.1083G= | XP_011538068.1:p.Leu361= | |
| XM_011539767.1:c.1047G= | XP_011538069.1:p.Leu349= | |
| XR_945733.1:n.1007G= | ||
| NM_000043.5:c.1002G= | NP_000034.1:p.Leu334= | |
| NM_001320619.1:c.*325G= | NP_001307548.1:n.*325G= | |
| NM_152871.3:c.939G= | NP_690610.1:p.Leu313= | |
| NM_152872.3:c.*314G= | NP_690611.1:n.*314G= | |
| NR_028033.3:n.1148G= | ||
| NR_028034.3:n.1010G= | ||
| NR_028035.3:n.1073G= | ||
| NR_028036.3:n.1211G= | ||
| NR_135313.1:n.1128G= | ||
| NR_135314.1:n.1311G= | ||
| NR_135315.1:n.1064G= | ||
| XM_006717819.3:c.1083G= | XP_006717882.1:p.Leu361= | |
| XM_011539764.2:c.1164G= | XP_011538066.1:p.Leu388= | |
| XM_011539765.2:c.1101G= | XP_011538067.1:p.Leu367= | |
| XM_011539766.2:c.1083G= | XP_011538068.1:p.Leu361= | |
| XM_011539767.3:c.1047G= | XP_011538069.1:p.Leu349= | |
| XR_945732.3:n.1070G= | ||
| XR_945733.2:n.1007G= | ||
| NM_000043.6:c.1002G= MANE Select | NP_000034.1:p.Leu334= | |
| NM_001320619.2:c.*325G= | NP_001307548.1:n.*325G= | |
| NM_152871.4:c.939G= | NP_690610.1:p.Leu313= | |
| NM_152872.4:c.*314G= | NP_690611.1:n.*314G= | |
| NR_028033.4:n.909G= | ||
| NR_028034.4:n.771G= | ||
| NR_028035.4:n.834G= | ||
| NR_028036.4:n.972G= | ||
| NR_135313.2:n.889G= | ||
| NR_135314.2:n.1168G= | ||
| NR_135315.2:n.921G= |