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.131515498G= , CM000671.2:g.131515498G= | GRCh38 |
| NC_000009.11:g.134390885G= , CM000671.1:g.134390885G= | GRCh37 |
| NC_000009.10:g.133380706G= | NCBI36 |
| NG_008896.1:g.17597G= | |
| NG_008896.2:g.17597G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1086G= | ENSP00000343034.7:p.Met362= | |
| ENST00000404875.7:n.1788G= | ||
| ENST00000423007.6:c.1305G= | ENSP00000404119.2:p.Met435= | |
| ENST00000677295.2:c.*1592G= | ENSP00000504346.2:n.*1592G= | |
| ENST00000678264.2:c.*1431G= | ENSP00000503157.2:n.*1431G= | |
| ENST00000682070.1:n.1713G= | ||
| ENST00000682539.1:c.73G= | ||
| ENST00000682813.1:n.1513G= | ||
| ENST00000683392.1:n.3995G= | ||
| ENST00000683712.1:n.1653G= | ||
| ENST00000683900.1:n.3148G= | ||
| ENST00000684062.1:n.1914G= | ||
| ENST00000684579.1:n.3094G= | ||
| ENST00000341012.12:c.1086G= | ENSP00000343034.7:p.Met362= | |
| ENST00000372220.5:c.117G= | ENSP00000361294.5:p.Met39= | |
| ENST00000372228.9:c.1314G= | ENSP00000361302.3:p.Met438= | |
| ENST00000402686.8:c.1248G= MANE Select | ENSP00000385797.4:p.Met416= | |
| ENST00000676640.1:c.1248G= | ENSP00000503281.1:p.Met416= | |
| ENST00000676803.1:c.423G= | ENSP00000503093.1:p.Met141= | |
| ENST00000676835.1:c.*463G= | ENSP00000502911.1:n.*463G= | |
| ENST00000677029.1:c.792G= | ENSP00000502936.1:p.Met264= | |
| ENST00000677099.1:c.*958G= | ENSP00000504553.1:n.*958G= | |
| ENST00000677216.1:c.897G= | ENSP00000503772.1:p.Met299= | |
| ENST00000677295.1:c.*625G= | ENSP00000504346.1:n.*625G= | |
| ENST00000677444.1:c.1054G= | ||
| ENST00000677586.1:n.729G= | ||
| ENST00000677626.1:c.897G= | ENSP00000503552.1:p.Met299= | |
| ENST00000677677.1:n.1208G= | ||
| ENST00000677853.1:c.*256G= | ENSP00000503488.1:n.*256G= | |
| ENST00000677944.1:c.510G= | ||
| ENST00000678264.1:c.*625G= | ENSP00000503157.1:n.*625G= | |
| ENST00000678303.1:c.1158G= | ENSP00000503696.1:p.Met386= | |
| ENST00000678366.1:c.*1497G= | ENSP00000504353.1:n.*1497G= | |
| ENST00000678546.1:c.*1193G= | ENSP00000503062.1:n.*1193G= | |
| ENST00000678548.1:c.*1320G= | ENSP00000503934.1:n.*1320G= | |
| ENST00000678626.1:n.945G= | ||
| ENST00000678733.1:c.329G= | ||
| ENST00000678739.1:c.*1574G= | ENSP00000503806.1:n.*1574G= | |
| ENST00000678795.1:n.335G= | ||
| ENST00000678833.1:c.*695G= | ENSP00000503893.1:n.*695G= | |
| ENST00000678942.1:c.428G= | ENSP00000504690.1:n.428G= | |
| ENST00000679023.1:c.1086G= | ENSP00000503718.1:p.Met362= | |
| ENST00000679076.1:c.867G= | ||
| ENST00000679111.1:c.1248G= | ENSP00000504257.1:p.Met416= | |
| ENST00000679189.1:c.897G= | ENSP00000503356.1:p.Met299= | |
| ENST00000341012.11:c.1086G= | ENSP00000343034.7:p.Met362= | |
| ENST00000372228.7:c.1314G= | ENSP00000361302.3:p.Met438= | |
| ENST00000402686.7:c.1248G= | ENSP00000385797.3:p.Met416= | |
| ENST00000404875.6:c.897G= | ENSP00000384531.2:p.Met299= | |
| ENST00000423007.5:c.1248G= | ENSP00000404119.1:p.Met416= | |
| ENST00000485278.5:n.1803G= | ||
| NM_001077365.1:c.1248G= | NP_001070833.1:p.Met416= | |
| NM_001077366.1:c.1086G= | NP_001070834.1:p.Met362= | |
| NM_001136113.1:c.1248G= | NP_001129585.1:p.Met416= | |
| NM_001136114.1:c.897G= | NP_001129586.1:p.Met299= | |
| NM_007171.3:c.1314G= | NP_009102.3:p.Met438= | |
| XM_005272156.1:c.1314G= | XP_005272213.1:p.Met438= | |
| XM_005272158.1:c.1152G= | XP_005272215.1:p.Met384= | |
| XM_005272159.1:c.963G= | XP_005272216.1:p.Met321= | |
| XM_005272162.1:c.117G= | XP_005272219.1:p.Met39= | |
| XM_006716932.1:c.963G= | XP_006716995.1:p.Met321= | |
| XM_011518140.1:c.1167G= | XP_011516442.1:p.Met389= | |
| XM_011518141.1:c.1101G= | XP_011516443.1:p.Met367= | |
| XM_011518142.1:c.1005G= | XP_011516444.1:p.Met335= | |
| XM_011518143.1:c.999G= | XP_011516445.1:p.Met333= | |
| XM_011518144.1:c.1314G= | XP_011516446.1:p.Met438= | |
| XM_011518145.1:c.858G= | XP_011516447.1:p.Met286= | |
| XM_011518146.1:c.999G= | XP_011516448.1:p.Met333= | |
| XR_929703.1:n.1490G= | ||
| NM_001353193.1:c.1314G= | NP_001340122.1:p.Met438= | |
| NM_001353194.1:c.1086G= | NP_001340123.1:p.Met362= | |
| NM_001353195.1:c.897G= | NP_001340124.1:p.Met299= | |
| NM_001353196.1:c.1158G= | NP_001340125.1:p.Met386= | |
| NM_001353197.1:c.1152G= | NP_001340126.1:p.Met384= | |
| NM_001353198.1:c.1152G= | NP_001340127.1:p.Met384= | |
| NM_001353199.1:c.963G= | NP_001340128.1:p.Met321= | |
| NM_001353200.1:c.792G= | NP_001340129.1:p.Met264= | |
| NR_148391.1:n.1298G= | ||
| NR_148392.1:n.1516G= | ||
| NR_148393.1:n.1298G= | ||
| NR_148394.1:n.1191G= | ||
| NR_148395.1:n.1450G= | ||
| NR_148396.1:n.1084G= | ||
| NR_148397.1:n.1348G= | ||
| NR_148398.1:n.1303G= | ||
| NR_148399.1:n.1690G= | ||
| NR_148400.1:n.1289G= | ||
| XM_005272162.3:c.117G= | XP_005272219.1:p.Met39= | |
| XM_006716932.2:c.963G= | XP_006716995.1:p.Met321= | |
| XM_011518140.2:c.1167G= | XP_011516442.1:p.Met389= | |
| XM_011518141.2:c.1101G= | XP_011516443.1:p.Met367= | |
| XM_011518142.2:c.1005G= | XP_011516444.1:p.Met335= | |
| XM_011518143.2:c.999G= | XP_011516445.1:p.Met333= | |
| XM_011518145.2:c.858G= | XP_011516447.1:p.Met286= | |
| XM_017014205.2:c.117G= | XP_016869694.1:p.Met39= | |
| XM_024447380.1:c.117G= | XP_024303148.1:p.Met39= | |
| XM_024447381.1:c.423G= | XP_024303149.1:p.Met141= | |
| XM_024447382.1:c.117G= | XP_024303150.1:p.Met39= | |
| XR_001746160.2:n.1418G= | ||
| XR_001746162.2:n.1484G= | ||
| XR_001746164.1:n.1201G= | ||
| XR_001746166.2:n.1635G= | ||
| NM_001077365.2:c.1248G= MANE Select | NP_001070833.1:p.Met416= | |
| NM_001077366.2:c.1086G= | NP_001070834.1:p.Met362= | |
| NM_001136113.2:c.1248G= | NP_001129585.1:p.Met416= | |
| NM_001136114.2:c.897G= | NP_001129586.1:p.Met299= | |
| NM_001353193.2:c.1314G= | NP_001340122.2:p.Met438= | |
| NM_001353194.2:c.1086G= | NP_001340123.1:p.Met362= | |
| NM_001353195.2:c.897G= | NP_001340124.1:p.Met299= | |
| NM_001353196.2:c.1158G= | NP_001340125.1:p.Met386= | |
| NM_001353197.2:c.1152G= | NP_001340126.2:p.Met384= | |
| NM_001353198.2:c.1152G= | NP_001340127.2:p.Met384= | |
| NM_001353199.2:c.963G= | NP_001340128.2:p.Met321= | |
| NM_001353200.2:c.792G= | NP_001340129.1:p.Met264= | |
| NM_001374689.1:c.1236G= | NP_001361618.1:p.Met412= | |
| NM_001374690.1:c.1248G= | NP_001361619.1:p.Met416= | |
| NM_001374691.1:c.897G= | NP_001361620.1:p.Met299= | |
| NM_001374692.1:c.897G= | NP_001361621.1:p.Met299= | |
| NM_001374693.1:c.897G= | NP_001361622.1:p.Met299= | |
| NM_001374695.1:c.858G= | NP_001361624.1:p.Met286= | |
| NM_007171.4:c.1314G= | NP_009102.4:p.Met438= | |
| NR_148391.2:n.1282G= | ||
| NR_148392.2:n.1500G= | ||
| NR_148393.2:n.1282G= | ||
| NR_148394.2:n.1175G= | ||
| NR_148395.2:n.1434G= | ||
| NR_148396.2:n.1068G= | ||
| NR_148397.2:n.1332G= | ||
| NR_148398.2:n.1287G= | ||
| NR_148399.2:n.1674G= | ||
| NR_148400.2:n.1273G= |