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_000009.12:g.131518851C= , CM000671.2:g.131518851C= | GRCh38 |
| NC_000009.11:g.134394238C= , CM000671.1:g.134394238C= | GRCh37 |
| NC_000009.10:g.133384059C= | NCBI36 |
| NG_008896.1:g.20950C= | |
| NG_008896.2:g.20950C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1218C= | ENSP00000343034.7:p.His406= | |
| ENST00000404875.7:n.1920C= | ||
| ENST00000423007.6:c.1437C= | ENSP00000404119.2:p.His479= | |
| ENST00000677295.2:c.*1724C= | ENSP00000504346.2:n.*1724C= | |
| ENST00000678264.2:c.*1563C= | ENSP00000503157.2:n.*1563C= | |
| ENST00000682070.1:n.1845C= | ||
| ENST00000682539.1:c.318C= | ||
| ENST00000682813.1:n.1784C= | ||
| ENST00000683392.1:n.4127C= | ||
| ENST00000683712.1:n.1785C= | ||
| ENST00000683900.1:n.3280C= | ||
| ENST00000684062.1:n.2046C= | ||
| ENST00000684579.1:n.3226C= | ||
| ENST00000684679.1:n.607C= | ||
| ENST00000341012.12:c.1218C= | ENSP00000343034.7:p.His406= | |
| ENST00000372220.5:c.249C= | ENSP00000361294.5:p.His83= | |
| ENST00000372228.9:c.1446C= | ENSP00000361302.3:p.His482= | |
| ENST00000402686.8:c.1380C= MANE Select | ENSP00000385797.4:p.His460= | |
| ENST00000676640.1:c.1380C= | ENSP00000503281.1:p.His460= | |
| ENST00000676803.1:c.555C= | ENSP00000503093.1:p.His185= | |
| ENST00000676835.1:c.*595C= | ENSP00000502911.1:n.*595C= | |
| ENST00000677029.1:c.924C= | ENSP00000502936.1:p.His308= | |
| ENST00000677099.1:c.*1090C= | ENSP00000504553.1:n.*1090C= | |
| ENST00000677216.1:c.1029C= | ENSP00000503772.1:p.His343= | |
| ENST00000677221.1:n.405C= | ||
| ENST00000677295.1:c.*757C= | ENSP00000504346.1:n.*757C= | |
| ENST00000677444.1:c.1325C= | ||
| ENST00000677586.1:n.861C= | ||
| ENST00000677626.1:c.1029C= | ENSP00000503552.1:p.His343= | |
| ENST00000677677.1:n.1340C= | ||
| ENST00000677853.1:c.*388C= | ENSP00000503488.1:n.*388C= | |
| ENST00000678202.1:n.539C= | ||
| ENST00000678264.1:c.*757C= | ENSP00000503157.1:n.*757C= | |
| ENST00000678303.1:c.1290C= | ENSP00000503696.1:p.His430= | |
| ENST00000678366.1:c.*1629C= | ENSP00000504353.1:n.*1629C= | |
| ENST00000678546.1:c.*1325C= | ENSP00000503062.1:n.*1325C= | |
| ENST00000678548.1:c.*1452C= | ENSP00000503934.1:n.*1452C= | |
| ENST00000678626.1:n.1216C= | ||
| ENST00000678733.1:c.461C= | ||
| ENST00000678739.1:c.*1706C= | ENSP00000503806.1:n.*1706C= | |
| ENST00000678833.1:c.*827C= | ENSP00000503893.1:n.*827C= | |
| ENST00000679023.1:c.1218C= | ENSP00000503718.1:p.His406= | |
| ENST00000679076.1:c.999C= | ||
| ENST00000679111.1:c.*136C= | ENSP00000504257.1:n.*136C= | |
| ENST00000679189.1:c.1029C= | ENSP00000503356.1:p.His343= | |
| ENST00000341012.11:c.1218C= | ENSP00000343034.7:p.His406= | |
| ENST00000372220.4:c.243C= | ENSP00000361294.4:p.His81= | |
| ENST00000372228.7:c.1446C= | ENSP00000361302.3:p.His482= | |
| ENST00000402686.7:c.1380C= | ENSP00000385797.3:p.His460= | |
| ENST00000404875.6:c.1029C= | ENSP00000384531.2:p.His343= | |
| ENST00000423007.5:c.1380C= | ENSP00000404119.1:p.His460= | |
| ENST00000467848.1:n.84C= | ||
| ENST00000485278.5:n.1935C= | ||
| NM_001077365.1:c.1380C= | NP_001070833.1:p.His460= | |
| NM_001077366.1:c.1218C= | NP_001070834.1:p.His406= | |
| NM_001136113.1:c.1380C= | NP_001129585.1:p.His460= | |
| NM_001136114.1:c.1029C= | NP_001129586.1:p.His343= | |
| NM_007171.3:c.1446C= | NP_009102.3:p.His482= | |
| XM_005272156.1:c.1446C= | XP_005272213.1:p.His482= | |
| XM_005272158.1:c.1284C= | XP_005272215.1:p.His428= | |
| XM_005272159.1:c.1095C= | XP_005272216.1:p.His365= | |
| XM_005272162.1:c.249C= | XP_005272219.1:p.His83= | |
| XM_006716932.1:c.1095C= | XP_006716995.1:p.His365= | |
| XM_011518140.1:c.1299C= | XP_011516442.1:p.His433= | |
| XM_011518141.1:c.1233C= | XP_011516443.1:p.His411= | |
| XM_011518142.1:c.1137C= | XP_011516444.1:p.His379= | |
| XM_011518143.1:c.1131C= | XP_011516445.1:p.His377= | |
| XM_011518144.1:c.*136C= | XP_011516446.1:n.*136C= | |
| XM_011518145.1:c.990C= | XP_011516447.1:p.His330= | |
| XM_011518146.1:c.*136C= | XP_011516448.1:n.*136C= | |
| XM_011518147.1:c.318C= | XP_011516449.1:p.His106= | |
| XR_929703.1:n.1622C= | ||
| NM_001353193.1:c.1446C= | NP_001340122.1:p.His482= | |
| NM_001353194.1:c.1218C= | NP_001340123.1:p.His406= | |
| NM_001353195.1:c.1029C= | NP_001340124.1:p.His343= | |
| NM_001353196.1:c.1290C= | NP_001340125.1:p.His430= | |
| NM_001353197.1:c.1284C= | NP_001340126.1:p.His428= | |
| NM_001353198.1:c.1284C= | NP_001340127.1:p.His428= | |
| NM_001353199.1:c.1095C= | NP_001340128.1:p.His365= | |
| NM_001353200.1:c.924C= | NP_001340129.1:p.His308= | |
| NR_148391.1:n.1430C= | ||
| NR_148392.1:n.1648C= | ||
| NR_148393.1:n.1569C= | ||
| NR_148394.1:n.1323C= | ||
| NR_148395.1:n.1721C= | ||
| NR_148396.1:n.1355C= | ||
| NR_148397.1:n.1480C= | ||
| NR_148398.1:n.1435C= | ||
| NR_148399.1:n.1961C= | ||
| NR_148400.1:n.1560C= | ||
| XM_005272162.3:c.249C= | XP_005272219.1:p.His83= | |
| XM_006716932.2:c.1095C= | XP_006716995.1:p.His365= | |
| XM_011518140.2:c.1299C= | XP_011516442.1:p.His433= | |
| XM_011518141.2:c.1233C= | XP_011516443.1:p.His411= | |
| XM_011518142.2:c.1137C= | XP_011516444.1:p.His379= | |
| XM_011518143.2:c.1131C= | XP_011516445.1:p.His377= | |
| XM_011518145.2:c.990C= | XP_011516447.1:p.His330= | |
| XM_017014205.2:c.249C= | XP_016869694.1:p.His83= | |
| XM_024447380.1:c.249C= | XP_024303148.1:p.His83= | |
| XM_024447381.1:c.555C= | XP_024303149.1:p.His185= | |
| XM_024447382.1:c.249C= | XP_024303150.1:p.His83= | |
| XR_001746160.2:n.1550C= | ||
| XR_001746162.2:n.1755C= | ||
| XR_001746164.1:n.1472C= | ||
| XR_001746166.2:n.1767C= | ||
| NM_001077365.2:c.1380C= MANE Select | NP_001070833.1:p.His460= | |
| NM_001077366.2:c.1218C= | NP_001070834.1:p.His406= | |
| NM_001136113.2:c.1380C= | NP_001129585.1:p.His460= | |
| NM_001136114.2:c.1029C= | NP_001129586.1:p.His343= | |
| NM_001353193.2:c.1446C= | NP_001340122.2:p.His482= | |
| NM_001353194.2:c.1218C= | NP_001340123.1:p.His406= | |
| NM_001353195.2:c.1029C= | NP_001340124.1:p.His343= | |
| NM_001353196.2:c.1290C= | NP_001340125.1:p.His430= | |
| NM_001353197.2:c.1284C= | NP_001340126.2:p.His428= | |
| NM_001353198.2:c.1284C= | NP_001340127.2:p.His428= | |
| NM_001353199.2:c.1095C= | NP_001340128.2:p.His365= | |
| NM_001353200.2:c.924C= | NP_001340129.1:p.His308= | |
| NM_001374689.1:c.1368C= | NP_001361618.1:p.His456= | |
| NM_001374690.1:c.1365+314C= | NP_001361619.1:n.1365+314C= | |
| NM_001374691.1:c.1029C= | NP_001361620.1:p.His343= | |
| NM_001374692.1:c.1029C= | NP_001361621.1:p.His343= | |
| NM_001374693.1:c.1029C= | NP_001361622.1:p.His343= | |
| NM_001374695.1:c.990C= | NP_001361624.1:p.His330= | |
| NM_007171.4:c.1446C= | NP_009102.4:p.His482= | |
| NR_148391.2:n.1414C= | ||
| NR_148392.2:n.1632C= | ||
| NR_148393.2:n.1553C= | ||
| NR_148394.2:n.1307C= | ||
| NR_148395.2:n.1705C= | ||
| NR_148396.2:n.1339C= | ||
| NR_148397.2:n.1464C= | ||
| NR_148398.2:n.1419C= | ||
| NR_148399.2:n.1945C= | ||
| NR_148400.2:n.1544C= |