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.131518484A= , CM000671.2:g.131518484A= | GRCh38 |
| NC_000009.11:g.134393871A= , CM000671.1:g.134393871A= | GRCh37 |
| NC_000009.10:g.133383692A= | NCBI36 |
| NG_008896.1:g.20583A= | |
| NG_008896.2:g.20583A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1150A= | ENSP00000343034.7:p.Thr384= | |
| ENST00000404875.7:n.1852A= | ||
| ENST00000423007.6:c.1369A= | ENSP00000404119.2:p.Thr457= | |
| ENST00000677295.2:c.*1656A= | ENSP00000504346.2:n.*1656A= | |
| ENST00000678264.2:c.*1495A= | ENSP00000503157.2:n.*1495A= | |
| ENST00000682070.1:n.1777A= | ||
| ENST00000682535.1:n.84A= | ||
| ENST00000682539.1:c.250A= | ||
| ENST00000682813.1:n.1577A= | ||
| ENST00000683110.1:n.40A= | ||
| ENST00000683392.1:n.4059A= | ||
| ENST00000683712.1:n.1717A= | ||
| ENST00000683900.1:n.3212A= | ||
| ENST00000684062.1:n.1978A= | ||
| ENST00000684579.1:n.3158A= | ||
| ENST00000684679.1:n.539A= | ||
| ENST00000341012.12:c.1150A= | ENSP00000343034.7:p.Thr384= | |
| ENST00000372220.5:c.181A= | ENSP00000361294.5:p.Thr61= | |
| ENST00000372228.9:c.1378A= | ENSP00000361302.3:p.Thr460= | |
| ENST00000402686.8:c.1312A= MANE Select | ENSP00000385797.4:p.Thr438= | |
| ENST00000676640.1:c.1312A= | ENSP00000503281.1:p.Thr438= | |
| ENST00000676803.1:c.487A= | ENSP00000503093.1:p.Thr163= | |
| ENST00000676835.1:c.*527A= | ENSP00000502911.1:n.*527A= | |
| ENST00000677029.1:c.856A= | ENSP00000502936.1:p.Thr286= | |
| ENST00000677099.1:c.*1022A= | ENSP00000504553.1:n.*1022A= | |
| ENST00000677216.1:c.961A= | ENSP00000503772.1:p.Thr321= | |
| ENST00000677221.1:n.337A= | ||
| ENST00000677295.1:c.*689A= | ENSP00000504346.1:n.*689A= | |
| ENST00000677444.1:c.1118A= | ||
| ENST00000677586.1:n.793A= | ||
| ENST00000677626.1:c.961A= | ENSP00000503552.1:p.Thr321= | |
| ENST00000677677.1:n.1272A= | ||
| ENST00000677853.1:c.*320A= | ENSP00000503488.1:n.*320A= | |
| ENST00000677983.1:n.401A= | ||
| ENST00000678202.1:n.332A= | ||
| ENST00000678264.1:c.*689A= | ENSP00000503157.1:n.*689A= | |
| ENST00000678303.1:c.1222A= | ENSP00000503696.1:p.Thr408= | |
| ENST00000678366.1:c.*1561A= | ENSP00000504353.1:n.*1561A= | |
| ENST00000678546.1:c.*1257A= | ENSP00000503062.1:n.*1257A= | |
| ENST00000678548.1:c.*1384A= | ENSP00000503934.1:n.*1384A= | |
| ENST00000678626.1:n.1009A= | ||
| ENST00000678733.1:c.393A= | ||
| ENST00000678739.1:c.*1638A= | ENSP00000503806.1:n.*1638A= | |
| ENST00000678795.1:n.399A= | ||
| ENST00000678833.1:c.*759A= | ENSP00000503893.1:n.*759A= | |
| ENST00000678942.1:c.492A= | ENSP00000504690.1:n.492A= | |
| ENST00000679023.1:c.1150A= | ENSP00000503718.1:p.Thr384= | |
| ENST00000679076.1:c.931A= | ||
| ENST00000679111.1:c.1312A= | ENSP00000504257.1:p.Thr438= | |
| ENST00000679189.1:c.961A= | ENSP00000503356.1:p.Thr321= | |
| ENST00000341012.11:c.1150A= | ENSP00000343034.7:p.Thr384= | |
| ENST00000372220.4:c.175A= | ENSP00000361294.4:p.Thr59= | |
| ENST00000372228.7:c.1378A= | ENSP00000361302.3:p.Thr460= | |
| ENST00000402686.7:c.1312A= | ENSP00000385797.3:p.Thr438= | |
| ENST00000404875.6:c.961A= | ENSP00000384531.2:p.Thr321= | |
| ENST00000423007.5:c.1312A= | ENSP00000404119.1:p.Thr438= | |
| ENST00000485278.5:n.1867A= | ||
| NM_001077365.1:c.1312A= | NP_001070833.1:p.Thr438= | |
| NM_001077366.1:c.1150A= | NP_001070834.1:p.Thr384= | |
| NM_001136113.1:c.1312A= | NP_001129585.1:p.Thr438= | |
| NM_001136114.1:c.961A= | NP_001129586.1:p.Thr321= | |
| NM_007171.3:c.1378A= | NP_009102.3:p.Thr460= | |
| XM_005272156.1:c.1378A= | XP_005272213.1:p.Thr460= | |
| XM_005272158.1:c.1216A= | XP_005272215.1:p.Thr406= | |
| XM_005272159.1:c.1027A= | XP_005272216.1:p.Thr343= | |
| XM_005272162.1:c.181A= | XP_005272219.1:p.Thr61= | |
| XM_006716932.1:c.1027A= | XP_006716995.1:p.Thr343= | |
| XM_011518140.1:c.1231A= | XP_011516442.1:p.Thr411= | |
| XM_011518141.1:c.1165A= | XP_011516443.1:p.Thr389= | |
| XM_011518142.1:c.1069A= | XP_011516444.1:p.Thr357= | |
| XM_011518143.1:c.1063A= | XP_011516445.1:p.Thr355= | |
| XM_011518144.1:c.1378A= | XP_011516446.1:p.Thr460= | |
| XM_011518145.1:c.922A= | XP_011516447.1:p.Thr308= | |
| XM_011518146.1:c.1063A= | XP_011516448.1:p.Thr355= | |
| XM_011518147.1:c.250A= | XP_011516449.1:p.Thr84= | |
| XR_929703.1:n.1554A= | ||
| NM_001353193.1:c.1378A= | NP_001340122.1:p.Thr460= | |
| NM_001353194.1:c.1150A= | NP_001340123.1:p.Thr384= | |
| NM_001353195.1:c.961A= | NP_001340124.1:p.Thr321= | |
| NM_001353196.1:c.1222A= | NP_001340125.1:p.Thr408= | |
| NM_001353197.1:c.1216A= | NP_001340126.1:p.Thr406= | |
| NM_001353198.1:c.1216A= | NP_001340127.1:p.Thr406= | |
| NM_001353199.1:c.1027A= | NP_001340128.1:p.Thr343= | |
| NM_001353200.1:c.856A= | NP_001340129.1:p.Thr286= | |
| NR_148391.1:n.1362A= | ||
| NR_148392.1:n.1580A= | ||
| NR_148393.1:n.1362A= | ||
| NR_148394.1:n.1255A= | ||
| NR_148395.1:n.1514A= | ||
| NR_148396.1:n.1148A= | ||
| NR_148397.1:n.1412A= | ||
| NR_148398.1:n.1367A= | ||
| NR_148399.1:n.1754A= | ||
| NR_148400.1:n.1353A= | ||
| XM_005272162.3:c.181A= | XP_005272219.1:p.Thr61= | |
| XM_006716932.2:c.1027A= | XP_006716995.1:p.Thr343= | |
| XM_011518140.2:c.1231A= | XP_011516442.1:p.Thr411= | |
| XM_011518141.2:c.1165A= | XP_011516443.1:p.Thr389= | |
| XM_011518142.2:c.1069A= | XP_011516444.1:p.Thr357= | |
| XM_011518143.2:c.1063A= | XP_011516445.1:p.Thr355= | |
| XM_011518145.2:c.922A= | XP_011516447.1:p.Thr308= | |
| XM_017014205.2:c.181A= | XP_016869694.1:p.Thr61= | |
| XM_024447380.1:c.181A= | XP_024303148.1:p.Thr61= | |
| XM_024447381.1:c.487A= | XP_024303149.1:p.Thr163= | |
| XM_024447382.1:c.181A= | XP_024303150.1:p.Thr61= | |
| XR_001746160.2:n.1482A= | ||
| XR_001746162.2:n.1548A= | ||
| XR_001746164.1:n.1265A= | ||
| XR_001746166.2:n.1699A= | ||
| NM_001077365.2:c.1312A= MANE Select | NP_001070833.1:p.Thr438= | |
| NM_001077366.2:c.1150A= | NP_001070834.1:p.Thr384= | |
| NM_001136113.2:c.1312A= | NP_001129585.1:p.Thr438= | |
| NM_001136114.2:c.961A= | NP_001129586.1:p.Thr321= | |
| NM_001353193.2:c.1378A= | NP_001340122.2:p.Thr460= | |
| NM_001353194.2:c.1150A= | NP_001340123.1:p.Thr384= | |
| NM_001353195.2:c.961A= | NP_001340124.1:p.Thr321= | |
| NM_001353196.2:c.1222A= | NP_001340125.1:p.Thr408= | |
| NM_001353197.2:c.1216A= | NP_001340126.2:p.Thr406= | |
| NM_001353198.2:c.1216A= | NP_001340127.2:p.Thr406= | |
| NM_001353199.2:c.1027A= | NP_001340128.2:p.Thr343= | |
| NM_001353200.2:c.856A= | NP_001340129.1:p.Thr286= | |
| NM_001374689.1:c.1300A= | NP_001361618.1:p.Thr434= | |
| NM_001374690.1:c.1312A= | NP_001361619.1:p.Thr438= | |
| NM_001374691.1:c.961A= | NP_001361620.1:p.Thr321= | |
| NM_001374692.1:c.961A= | NP_001361621.1:p.Thr321= | |
| NM_001374693.1:c.961A= | NP_001361622.1:p.Thr321= | |
| NM_001374695.1:c.922A= | NP_001361624.1:p.Thr308= | |
| NM_007171.4:c.1378A= | NP_009102.4:p.Thr460= | |
| NR_148391.2:n.1346A= | ||
| NR_148392.2:n.1564A= | ||
| NR_148393.2:n.1346A= | ||
| NR_148394.2:n.1239A= | ||
| NR_148395.2:n.1498A= | ||
| NR_148396.2:n.1132A= | ||
| NR_148397.2:n.1396A= | ||
| NR_148398.2:n.1351A= | ||
| NR_148399.2:n.1738A= | ||
| NR_148400.2:n.1337A= |