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.5973416C= , CM000669.2:g.5973416C= | GRCh38 |
| NC_000007.13:g.6013047C= , CM000669.1:g.6013047C= | GRCh37 |
| NC_000007.12:g.5979573C= | NCBI36 |
| NG_008466.1:g.40691G= , LRG_161:g.40691G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1968G= | ENSP00000514615.2:n.*1968G= | |
| ENST00000699840.2:c.2569G= | ENSP00000514638.2:p.Val857= | |
| ENST00000699930.2:c.2464G= | ENSP00000514695.2:p.Val822= | |
| ENST00000406569.8:c.1932G= | ENSP00000514464.1:n.1932G= | |
| ENST00000644110.2:c.*2166G= | ENSP00000496392.2:n.*2166G= | |
| ENST00000699752.1:c.2416G= | ENSP00000514561.1:p.Val806= | |
| ENST00000699753.1:c.*1993G= | ENSP00000514562.1:n.*1993G= | |
| ENST00000699754.1:c.2374G= | ENSP00000514563.1:p.Val792= | |
| ENST00000699755.1:c.*1971G= | ENSP00000514564.1:n.*1971G= | |
| ENST00000699756.1:c.*2159G= | ENSP00000514565.1:n.*2159G= | |
| ENST00000699757.1:c.*1829G= | ENSP00000514566.1:n.*1829G= | |
| ENST00000699758.1:c.*1829G= | ENSP00000514567.1:n.*1829G= | |
| ENST00000699759.1:n.3426G= | ||
| ENST00000699760.1:c.2254G= | ENSP00000514568.1:p.Val752= | |
| ENST00000699761.1:c.2167G= | ENSP00000514569.1:p.Val723= | |
| ENST00000699762.1:c.1999G= | ENSP00000514570.1:p.Val667= | |
| ENST00000699763.1:c.*1662G= | ENSP00000514571.1:n.*1662G= | |
| ENST00000699764.1:c.*890G= | ENSP00000514572.1:n.*890G= | |
| ENST00000699765.1:c.*1567G= | ENSP00000514573.1:n.*1567G= | |
| ENST00000699766.1:c.2605G= | ENSP00000514574.1:p.Val869= | |
| ENST00000699767.1:c.*213G= | ENSP00000514575.1:n.*213G= | |
| ENST00000699768.1:c.2428G= | ENSP00000514576.1:p.Val810= | |
| ENST00000699811.1:c.2167G= | ENSP00000514614.1:p.Val723= | |
| ENST00000699813.1:n.2685G= | ||
| ENST00000699814.1:c.2195G= | ||
| ENST00000699815.1:c.*2103G= | ENSP00000514616.1:n.*2103G= | |
| ENST00000699816.1:c.*1462G= | ENSP00000514617.1:n.*1462G= | |
| ENST00000699817.1:c.*2166G= | ENSP00000514618.1:n.*2166G= | |
| ENST00000699818.1:c.2167G= | ENSP00000514619.1:p.Val723= | |
| ENST00000699819.1:c.*1729G= | ENSP00000514620.1:n.*1729G= | |
| ENST00000699820.1:c.*510G= | ENSP00000514621.1:n.*510G= | |
| ENST00000699821.1:c.2200G= | ENSP00000514622.1:p.Val734= | |
| ENST00000699822.1:c.*2024G= | ENSP00000514623.1:n.*2024G= | |
| ENST00000699823.1:c.2167G= | ENSP00000514624.1:p.Val723= | |
| ENST00000699824.1:c.*2075G= | ENSP00000514625.1:n.*2075G= | |
| ENST00000699825.1:c.2011G= | ENSP00000514626.1:p.Val671= | |
| ENST00000699826.1:c.*1971G= | ENSP00000514627.1:n.*1971G= | |
| ENST00000699827.1:c.2404G= | ENSP00000514628.1:p.Val802= | |
| ENST00000699828.1:c.*1662G= | ENSP00000514629.1:n.*1662G= | |
| ENST00000699833.1:n.4344G= | ||
| ENST00000699837.1:c.2167G= | ENSP00000514635.1:p.Val723= | |
| ENST00000699838.1:c.*2472G= | ENSP00000514636.1:n.*2472G= | |
| ENST00000699839.1:c.2758G= | ENSP00000514637.1:p.Val920= | |
| ENST00000699916.1:c.*1829G= | ENSP00000514684.1:n.*1829G= | |
| ENST00000699917.1:c.*2021G= | ENSP00000514685.1:n.*2021G= | |
| ENST00000699918.1:c.*2073G= | ENSP00000514686.1:n.*2073G= | |
| ENST00000699919.1:c.*2159G= | ENSP00000514687.1:n.*2159G= | |
| ENST00000699920.1:c.*2208G= | ENSP00000514688.1:n.*2208G= | |
| ENST00000699928.1:c.*510G= | ENSP00000514693.1:n.*510G= | |
| ENST00000699951.1:c.*1625G= | ENSP00000514706.1:n.*1625G= | |
| ENST00000699952.1:c.*126G= | ENSP00000514707.1:n.*126G= | |
| ENST00000265849.12:c.2572G= MANE Select | ENSP00000265849.7:p.Val858= | |
| ENST00000642292.1:c.2167G= | ENSP00000495524.1:p.Val723= | |
| ENST00000642456.1:c.2167G= | ENSP00000493814.1:p.Val723= | |
| ENST00000643595.1:c.*1971G= | ENSP00000494497.1:n.*1971G= | |
| ENST00000644110.1:c.2254G= | ENSP00000496392.1:p.Val752= | |
| ENST00000265849.11:c.2572G= | ENSP00000265849.7:p.Val858= | |
| ENST00000382321.5:c.1369G= | ENSP00000371758.4:p.Val457= | |
| ENST00000441476.6:c.2254G= | ENSP00000392843.2:p.Val752= | |
| NM_000535.5:c.2572G= , LRG_161t1:c.2572G= | NP_000526.1:p.Val858= | |
| NR_003085.2:n.2654G= | ||
| XM_006715742.2:c.2566G= | XP_006715805.1:p.Val856= | |
| XM_006715744.2:c.1639G= | XP_006715807.1:p.Val547= | |
| XM_011515427.1:c.2617G= | XP_011513729.1:p.Val873= | |
| XM_011515428.1:c.2461G= | XP_011513730.1:p.Val821= | |
| XM_011515429.1:c.2254G= | XP_011513731.1:p.Val752= | |
| XM_011515430.1:c.2254G= | XP_011513732.1:p.Val752= | |
| NM_000535.6:c.2572G= | NP_000526.2:p.Val858= | |
| NM_001322003.1:c.2167G= | NP_001308932.1:p.Val723= | |
| NM_001322004.1:c.2167G= | NP_001308933.1:p.Val723= | |
| NM_001322005.1:c.2167G= | NP_001308934.1:p.Val723= | |
| NM_001322006.1:c.2416G= | NP_001308935.1:p.Val806= | |
| NM_001322007.1:c.2254G= | NP_001308936.1:p.Val752= | |
| NM_001322008.1:c.2254G= | NP_001308937.1:p.Val752= | |
| NM_001322009.1:c.2200G= | NP_001308938.1:p.Val734= | |
| NM_001322010.1:c.2011G= | NP_001308939.1:p.Val671= | |
| NM_001322011.1:c.1639G= | NP_001308940.1:p.Val547= | |
| NM_001322012.1:c.1639G= | NP_001308941.1:p.Val547= | |
| NM_001322013.1:c.1999G= | NP_001308942.1:p.Val667= | |
| NM_001322014.1:c.2605G= | NP_001308943.1:p.Val869= | |
| NM_001322015.1:c.2263G= | NP_001308944.1:p.Val755= | |
| NR_136154.1:n.2616G= | ||
| XM_006715744.4:c.1639G= | XP_006715807.1:p.Val547= | |
| XM_017012342.2:c.1639G= | XP_016867831.1:p.Val547= | |
| XM_024446800.1:c.2011G= | XP_024302568.1:p.Val671= | |
| NM_000535.7:c.2572G= MANE Select | NP_000526.2:p.Val858= | |
| NM_001322003.2:c.2167G= | NP_001308932.1:p.Val723= | |
| NM_001322004.2:c.2167G= | NP_001308933.1:p.Val723= | |
| NM_001322005.2:c.2167G= | NP_001308934.1:p.Val723= | |
| NM_001322006.2:c.2416G= | NP_001308935.1:p.Val806= | |
| NM_001322008.2:c.2254G= | NP_001308937.1:p.Val752= | |
| NM_001322009.2:c.2200G= | NP_001308938.1:p.Val734= | |
| NM_001322010.2:c.2011G= | NP_001308939.1:p.Val671= | |
| NM_001322011.2:c.1639G= | NP_001308940.1:p.Val547= | |
| NM_001322012.2:c.1639G= | NP_001308941.1:p.Val547= | |
| NM_001322013.2:c.1999G= | NP_001308942.1:p.Val667= | |
| NM_001322014.2:c.2605G= | NP_001308943.1:p.Val869= | |
| NM_001322015.2:c.2263G= | NP_001308944.1:p.Val755= | |
| NM_001322007.2:c.2254G= | NP_001308936.1:p.Val752= |