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.5982986G= , CM000669.2:g.5982986G= | GRCh38 |
| NC_000007.13:g.6022617G= , CM000669.1:g.6022617G= | GRCh37 |
| NC_000007.12:g.5989143G= | NCBI36 |
| NG_008466.1:g.31121C= , LRG_161:g.31121C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1408C= | ENSP00000514615.2:n.*1408C= | |
| ENST00000699840.2:c.2009C= | ENSP00000514638.2:p.Thr670= | |
| ENST00000699930.2:c.1904C= | ENSP00000514695.2:p.Thr635= | |
| ENST00000406569.8:c.1678+4101C= | ENSP00000514464.1:n.1678+4101C= | |
| ENST00000644110.2:c.*1606C= | ENSP00000496392.2:n.*1606C= | |
| ENST00000699752.1:c.1856C= | ENSP00000514561.1:p.Thr619= | |
| ENST00000699753.1:c.*1433C= | ENSP00000514562.1:n.*1433C= | |
| ENST00000699754.1:c.1814C= | ENSP00000514563.1:p.Thr605= | |
| ENST00000699755.1:c.*1411C= | ENSP00000514564.1:n.*1411C= | |
| ENST00000699756.1:c.*1599C= | ENSP00000514565.1:n.*1599C= | |
| ENST00000699757.1:c.*1269C= | ENSP00000514566.1:n.*1269C= | |
| ENST00000699758.1:c.*1269C= | ENSP00000514567.1:n.*1269C= | |
| ENST00000699759.1:n.2866C= | ||
| ENST00000699760.1:c.1694C= | ENSP00000514568.1:p.Thr565= | |
| ENST00000699761.1:c.1607C= | ENSP00000514569.1:p.Thr536= | |
| ENST00000699762.1:c.1439C= | ENSP00000514570.1:p.Thr480= | |
| ENST00000699763.1:c.*1102C= | ENSP00000514571.1:n.*1102C= | |
| ENST00000699764.1:c.*330C= | ENSP00000514572.1:n.*330C= | |
| ENST00000699765.1:c.*1108C= | ENSP00000514573.1:n.*1108C= | |
| ENST00000699766.1:c.2012C= | ENSP00000514574.1:p.Thr671= | |
| ENST00000699767.1:c.2012C= | ENSP00000514575.1:p.Thr671= | |
| ENST00000699768.1:c.2012C= | ENSP00000514576.1:p.Thr671= | |
| ENST00000699811.1:c.1607C= | ENSP00000514614.1:p.Thr536= | |
| ENST00000699813.1:n.2125C= | ||
| ENST00000699814.1:c.1635C= | ||
| ENST00000699815.1:c.*1543C= | ENSP00000514616.1:n.*1543C= | |
| ENST00000699816.1:c.*902C= | ENSP00000514617.1:n.*902C= | |
| ENST00000699817.1:c.*1606C= | ENSP00000514618.1:n.*1606C= | |
| ENST00000699818.1:c.1607C= | ENSP00000514619.1:p.Thr536= | |
| ENST00000699819.1:c.*1169C= | ENSP00000514620.1:n.*1169C= | |
| ENST00000699820.1:c.1150C= | ENSP00000514621.1:p.Arg384= | |
| ENST00000699821.1:c.1607C= | ENSP00000514622.1:p.Thr536= | |
| ENST00000699822.1:c.*1464C= | ENSP00000514623.1:n.*1464C= | |
| ENST00000699823.1:c.1607C= | ENSP00000514624.1:p.Thr536= | |
| ENST00000699824.1:c.*1515C= | ENSP00000514625.1:n.*1515C= | |
| ENST00000699825.1:c.1451C= | ENSP00000514626.1:p.Thr484= | |
| ENST00000699826.1:c.*1411C= | ENSP00000514627.1:n.*1411C= | |
| ENST00000699827.1:c.1844C= | ENSP00000514628.1:p.Thr615= | |
| ENST00000699828.1:c.*1102C= | ENSP00000514629.1:n.*1102C= | |
| ENST00000699833.1:n.3784C= | ||
| ENST00000699837.1:c.1607C= | ENSP00000514635.1:p.Thr536= | |
| ENST00000699838.1:c.*1912C= | ENSP00000514636.1:n.*1912C= | |
| ENST00000699839.1:c.2198C= | ENSP00000514637.1:p.Thr733= | |
| ENST00000699916.1:c.*1269C= | ENSP00000514684.1:n.*1269C= | |
| ENST00000699917.1:c.*1461C= | ENSP00000514685.1:n.*1461C= | |
| ENST00000699918.1:c.*1513C= | ENSP00000514686.1:n.*1513C= | |
| ENST00000699919.1:c.*1599C= | ENSP00000514687.1:n.*1599C= | |
| ENST00000699920.1:c.*1648C= | ENSP00000514688.1:n.*1648C= | |
| ENST00000699928.1:c.994C= | ENSP00000514693.1:p.Arg332= | |
| ENST00000699951.1:c.*1108C= | ENSP00000514706.1:n.*1108C= | |
| ENST00000699952.1:c.804-9444C= | ENSP00000514707.1:n.804-9444C= | |
| ENST00000265849.12:c.2012C= MANE Select | ENSP00000265849.7:p.Thr671= | |
| ENST00000642292.1:c.1607C= | ENSP00000495524.1:p.Thr536= | |
| ENST00000642456.1:c.1607C= | ENSP00000493814.1:p.Thr536= | |
| ENST00000643595.1:c.*1411C= | ENSP00000494497.1:n.*1411C= | |
| ENST00000644110.1:c.1694C= | ENSP00000496392.1:p.Thr565= | |
| ENST00000265849.11:c.2012C= | ENSP00000265849.7:p.Thr671= | |
| ENST00000382321.5:c.809C= | ENSP00000371758.4:p.Thr270= | |
| ENST00000406569.7:n.1678+4101C= | ||
| ENST00000441476.6:c.1694C= | ENSP00000392843.2:p.Thr565= | |
| ENST00000469652.1:n.63-81C= | ||
| NM_000535.5:c.2012C= , LRG_161t1:c.2012C= | NP_000526.1:p.Thr671= | |
| NR_003085.2:n.2094C= | ||
| XM_006715742.2:c.2006C= | XP_006715805.1:p.Thr669= | |
| XM_006715744.2:c.1079C= | XP_006715807.1:p.Thr360= | |
| XM_011515427.1:c.2057C= | XP_011513729.1:p.Thr686= | |
| XM_011515428.1:c.1901C= | XP_011513730.1:p.Thr634= | |
| XM_011515429.1:c.1694C= | XP_011513731.1:p.Thr565= | |
| XM_011515430.1:c.1694C= | XP_011513732.1:p.Thr565= | |
| NM_000535.6:c.2012C= | NP_000526.2:p.Thr671= | |
| NM_001322003.1:c.1607C= | NP_001308932.1:p.Thr536= | |
| NM_001322004.1:c.1607C= | NP_001308933.1:p.Thr536= | |
| NM_001322005.1:c.1607C= | NP_001308934.1:p.Thr536= | |
| NM_001322006.1:c.1856C= | NP_001308935.1:p.Thr619= | |
| NM_001322007.1:c.1694C= | NP_001308936.1:p.Thr565= | |
| NM_001322008.1:c.1694C= | NP_001308937.1:p.Thr565= | |
| NM_001322009.1:c.1607C= | NP_001308938.1:p.Thr536= | |
| NM_001322010.1:c.1451C= | NP_001308939.1:p.Thr484= | |
| NM_001322011.1:c.1079C= | NP_001308940.1:p.Thr360= | |
| NM_001322012.1:c.1079C= | NP_001308941.1:p.Thr360= | |
| NM_001322013.1:c.1439C= | NP_001308942.1:p.Thr480= | |
| NM_001322014.1:c.2012C= | NP_001308943.1:p.Thr671= | |
| NM_001322015.1:c.1703C= | NP_001308944.1:p.Thr568= | |
| NR_136154.1:n.2099C= | ||
| XM_006715744.4:c.1079C= | XP_006715807.1:p.Thr360= | |
| XM_017012342.2:c.1079C= | XP_016867831.1:p.Thr360= | |
| XM_024446800.1:c.1451C= | XP_024302568.1:p.Thr484= | |
| NM_000535.7:c.2012C= MANE Select | NP_000526.2:p.Thr671= | |
| NM_001322003.2:c.1607C= | NP_001308932.1:p.Thr536= | |
| NM_001322004.2:c.1607C= | NP_001308933.1:p.Thr536= | |
| NM_001322005.2:c.1607C= | NP_001308934.1:p.Thr536= | |
| NM_001322006.2:c.1856C= | NP_001308935.1:p.Thr619= | |
| NM_001322008.2:c.1694C= | NP_001308937.1:p.Thr565= | |
| NM_001322009.2:c.1607C= | NP_001308938.1:p.Thr536= | |
| NM_001322010.2:c.1451C= | NP_001308939.1:p.Thr484= | |
| NM_001322011.2:c.1079C= | NP_001308940.1:p.Thr360= | |
| NM_001322012.2:c.1079C= | NP_001308941.1:p.Thr360= | |
| NM_001322013.2:c.1439C= | NP_001308942.1:p.Thr480= | |
| NM_001322014.2:c.2012C= | NP_001308943.1:p.Thr671= | |
| NM_001322015.2:c.1703C= | NP_001308944.1:p.Thr568= | |
| NM_001322007.2:c.1694C= | NP_001308936.1:p.Thr565= |