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_000007.14:g.5977641A= , CM000669.2:g.5977641A= | GRCh38 |
| NC_000007.13:g.6017272A= , CM000669.1:g.6017272A= | GRCh37 |
| NC_000007.12:g.5983798A= | NCBI36 |
| NG_008466.1:g.36466T= , LRG_161:g.36466T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1788T= | ENSP00000514615.2:n.*1788T= | |
| ENST00000699840.2:c.2389T= | ENSP00000514638.2:p.Cys797= | |
| ENST00000699930.2:c.2284T= | ENSP00000514695.2:p.Cys762= | |
| ENST00000406569.8:c.1752T= | ENSP00000514464.1:n.1752T= | |
| ENST00000644110.2:c.*1986T= | ENSP00000496392.2:n.*1986T= | |
| ENST00000699752.1:c.2236T= | ENSP00000514561.1:p.Cys746= | |
| ENST00000699753.1:c.*1813T= | ENSP00000514562.1:n.*1813T= | |
| ENST00000699754.1:c.2194T= | ENSP00000514563.1:p.Cys732= | |
| ENST00000699755.1:c.*1791T= | ENSP00000514564.1:n.*1791T= | |
| ENST00000699756.1:c.*1979T= | ENSP00000514565.1:n.*1979T= | |
| ENST00000699757.1:c.*1649T= | ENSP00000514566.1:n.*1649T= | |
| ENST00000699758.1:c.*1649T= | ENSP00000514567.1:n.*1649T= | |
| ENST00000699759.1:n.3246T= | ||
| ENST00000699760.1:c.2074T= | ENSP00000514568.1:p.Cys692= | |
| ENST00000699761.1:c.1987T= | ENSP00000514569.1:p.Cys663= | |
| ENST00000699762.1:c.1819T= | ENSP00000514570.1:p.Cys607= | |
| ENST00000699763.1:c.*1482T= | ENSP00000514571.1:n.*1482T= | |
| ENST00000699764.1:c.*710T= | ENSP00000514572.1:n.*710T= | |
| ENST00000699765.1:c.*1387T= | ENSP00000514573.1:n.*1387T= | |
| ENST00000699766.1:c.2425T= | ENSP00000514574.1:p.Cys809= | |
| ENST00000699767.1:c.*33T= | ENSP00000514575.1:n.*33T= | |
| ENST00000699768.1:c.2248T= | ENSP00000514576.1:p.Cys750= | |
| ENST00000699811.1:c.1987T= | ENSP00000514614.1:p.Cys663= | |
| ENST00000699813.1:n.2505T= | ||
| ENST00000699814.1:c.2015T= | ||
| ENST00000699815.1:c.*1923T= | ENSP00000514616.1:n.*1923T= | |
| ENST00000699816.1:c.*1282T= | ENSP00000514617.1:n.*1282T= | |
| ENST00000699817.1:c.*1986T= | ENSP00000514618.1:n.*1986T= | |
| ENST00000699818.1:c.1987T= | ENSP00000514619.1:p.Cys663= | |
| ENST00000699819.1:c.*1549T= | ENSP00000514620.1:n.*1549T= | |
| ENST00000699820.1:c.*330T= | ENSP00000514621.1:n.*330T= | |
| ENST00000699821.1:c.2020T= | ENSP00000514622.1:p.Cys674= | |
| ENST00000699822.1:c.*1844T= | ENSP00000514623.1:n.*1844T= | |
| ENST00000699823.1:c.1987T= | ENSP00000514624.1:p.Cys663= | |
| ENST00000699824.1:c.*1895T= | ENSP00000514625.1:n.*1895T= | |
| ENST00000699825.1:c.1831T= | ENSP00000514626.1:p.Cys611= | |
| ENST00000699826.1:c.*1791T= | ENSP00000514627.1:n.*1791T= | |
| ENST00000699827.1:c.2224T= | ENSP00000514628.1:p.Cys742= | |
| ENST00000699828.1:c.*1482T= | ENSP00000514629.1:n.*1482T= | |
| ENST00000699833.1:n.4164T= | ||
| ENST00000699837.1:c.1987T= | ENSP00000514635.1:p.Cys663= | |
| ENST00000699838.1:c.*2292T= | ENSP00000514636.1:n.*2292T= | |
| ENST00000699839.1:c.2578T= | ENSP00000514637.1:p.Cys860= | |
| ENST00000699916.1:c.*1649T= | ENSP00000514684.1:n.*1649T= | |
| ENST00000699917.1:c.*1841T= | ENSP00000514685.1:n.*1841T= | |
| ENST00000699918.1:c.*1893T= | ENSP00000514686.1:n.*1893T= | |
| ENST00000699919.1:c.*1979T= | ENSP00000514687.1:n.*1979T= | |
| ENST00000699920.1:c.*2028T= | ENSP00000514688.1:n.*2028T= | |
| ENST00000699928.1:c.*330T= | ENSP00000514693.1:n.*330T= | |
| ENST00000699951.1:c.*1445T= | ENSP00000514706.1:n.*1445T= | |
| ENST00000699952.1:c.804-4099T= | ENSP00000514707.1:n.804-4099T= | |
| ENST00000265849.12:c.2392T= MANE Select | ENSP00000265849.7:p.Cys798= | |
| ENST00000642292.1:c.1987T= | ENSP00000495524.1:p.Cys663= | |
| ENST00000642456.1:c.1987T= | ENSP00000493814.1:p.Cys663= | |
| ENST00000643595.1:c.*1791T= | ENSP00000494497.1:n.*1791T= | |
| ENST00000644110.1:c.2074T= | ENSP00000496392.1:p.Cys692= | |
| ENST00000265849.11:c.2392T= | ENSP00000265849.7:p.Cys798= | |
| ENST00000382321.5:c.1189T= | ENSP00000371758.4:p.Cys397= | |
| ENST00000441476.6:c.2074T= | ENSP00000392843.2:p.Cys692= | |
| NM_000535.5:c.2392T= , LRG_161t1:c.2392T= | NP_000526.1:p.Cys798= | |
| NR_003085.2:n.2474T= | ||
| XM_006715742.2:c.2386T= | XP_006715805.1:p.Cys796= | |
| XM_006715744.2:c.1459T= | XP_006715807.1:p.Cys487= | |
| XM_011515427.1:c.2437T= | XP_011513729.1:p.Cys813= | |
| XM_011515428.1:c.2281T= | XP_011513730.1:p.Cys761= | |
| XM_011515429.1:c.2074T= | XP_011513731.1:p.Cys692= | |
| XM_011515430.1:c.2074T= | XP_011513732.1:p.Cys692= | |
| NM_000535.6:c.2392T= | NP_000526.2:p.Cys798= | |
| NM_001322003.1:c.1987T= | NP_001308932.1:p.Cys663= | |
| NM_001322004.1:c.1987T= | NP_001308933.1:p.Cys663= | |
| NM_001322005.1:c.1987T= | NP_001308934.1:p.Cys663= | |
| NM_001322006.1:c.2236T= | NP_001308935.1:p.Cys746= | |
| NM_001322007.1:c.2074T= | NP_001308936.1:p.Cys692= | |
| NM_001322008.1:c.2074T= | NP_001308937.1:p.Cys692= | |
| NM_001322009.1:c.2020T= | NP_001308938.1:p.Cys674= | |
| NM_001322010.1:c.1831T= | NP_001308939.1:p.Cys611= | |
| NM_001322011.1:c.1459T= | NP_001308940.1:p.Cys487= | |
| NM_001322012.1:c.1459T= | NP_001308941.1:p.Cys487= | |
| NM_001322013.1:c.1819T= | NP_001308942.1:p.Cys607= | |
| NM_001322014.1:c.2425T= | NP_001308943.1:p.Cys809= | |
| NM_001322015.1:c.2083T= | NP_001308944.1:p.Cys695= | |
| NR_136154.1:n.2436T= | ||
| XM_006715744.4:c.1459T= | XP_006715807.1:p.Cys487= | |
| XM_017012342.2:c.1459T= | XP_016867831.1:p.Cys487= | |
| XM_024446800.1:c.1831T= | XP_024302568.1:p.Cys611= | |
| NM_000535.7:c.2392T= MANE Select | NP_000526.2:p.Cys798= | |
| NM_001322003.2:c.1987T= | NP_001308932.1:p.Cys663= | |
| NM_001322004.2:c.1987T= | NP_001308933.1:p.Cys663= | |
| NM_001322005.2:c.1987T= | NP_001308934.1:p.Cys663= | |
| NM_001322006.2:c.2236T= | NP_001308935.1:p.Cys746= | |
| NM_001322008.2:c.2074T= | NP_001308937.1:p.Cys692= | |
| NM_001322009.2:c.2020T= | NP_001308938.1:p.Cys674= | |
| NM_001322010.2:c.1831T= | NP_001308939.1:p.Cys611= | |
| NM_001322011.2:c.1459T= | NP_001308940.1:p.Cys487= | |
| NM_001322012.2:c.1459T= | NP_001308941.1:p.Cys487= | |
| NM_001322013.2:c.1819T= | NP_001308942.1:p.Cys607= | |
| NM_001322014.2:c.2425T= | NP_001308943.1:p.Cys809= | |
| NM_001322015.2:c.2083T= | NP_001308944.1:p.Cys695= | |
| NM_001322007.2:c.2074T= | NP_001308936.1:p.Cys692= |