SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518919G= , CM000671.2:g.131518919G= | GRCh38 |
| NC_000009.11:g.134394306G= , CM000671.1:g.134394306G= | GRCh37 |
| NC_000009.10:g.133384127G= | NCBI36 |
| NG_008896.1:g.21018G= | |
| NG_008896.2:g.21018G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1286G= | ENSP00000343034.7:p.Ser429= | |
| ENST00000404875.7:n.1988G= | ||
| ENST00000423007.6:c.1505G= | ENSP00000404119.2:p.Ser502= | |
| ENST00000677295.2:c.*1792G= | ENSP00000504346.2:n.*1792G= | |
| ENST00000678264.2:c.*1631G= | ENSP00000503157.2:n.*1631G= | |
| ENST00000682070.1:n.1913G= | ||
| ENST00000682539.1:c.386G= | ||
| ENST00000682813.1:n.1852G= | ||
| ENST00000683392.1:n.4195G= | ||
| ENST00000683712.1:n.1853G= | ||
| ENST00000683900.1:n.3348G= | ||
| ENST00000684062.1:n.2114G= | ||
| ENST00000684579.1:n.3294G= | ||
| ENST00000684679.1:n.675G= | ||
| ENST00000341012.12:c.1286G= | ENSP00000343034.7:p.Ser429= | |
| ENST00000372220.5:c.317G= | ENSP00000361294.5:p.Ser106= | |
| ENST00000372228.9:c.1514G= | ENSP00000361302.3:p.Ser505= | |
| ENST00000402686.8:c.1448G= MANE Select | ENSP00000385797.4:p.Ser483= | |
| ENST00000676640.1:c.1448G= | ENSP00000503281.1:p.Ser483= | |
| ENST00000676803.1:c.623G= | ENSP00000503093.1:p.Ser208= | |
| ENST00000676835.1:c.*663G= | ENSP00000502911.1:n.*663G= | |
| ENST00000677029.1:c.992G= | ENSP00000502936.1:p.Ser331= | |
| ENST00000677099.1:c.*1158G= | ENSP00000504553.1:n.*1158G= | |
| ENST00000677216.1:c.1097G= | ENSP00000503772.1:p.Ser366= | |
| ENST00000677221.1:n.473G= | ||
| ENST00000677295.1:c.*825G= | ENSP00000504346.1:n.*825G= | |
| ENST00000677444.1:c.1393G= | ||
| ENST00000677586.1:n.929G= | ||
| ENST00000677626.1:c.1097G= | ENSP00000503552.1:p.Ser366= | |
| ENST00000677677.1:n.1408G= | ||
| ENST00000677853.1:c.*456G= | ENSP00000503488.1:n.*456G= | |
| ENST00000678202.1:n.607G= | ||
| ENST00000678264.1:c.*825G= | ENSP00000503157.1:n.*825G= | |
| ENST00000678303.1:c.1358G= | ENSP00000503696.1:p.Ser453= | |
| ENST00000678366.1:c.*1697G= | ENSP00000504353.1:n.*1697G= | |
| ENST00000678546.1:c.*1393G= | ENSP00000503062.1:n.*1393G= | |
| ENST00000678548.1:c.*1520G= | ENSP00000503934.1:n.*1520G= | |
| ENST00000678626.1:n.1284G= | ||
| ENST00000678733.1:c.529G= | ||
| ENST00000678739.1:c.*1774G= | ENSP00000503806.1:n.*1774G= | |
| ENST00000678833.1:c.*895G= | ENSP00000503893.1:n.*895G= | |
| ENST00000679023.1:c.1286G= | ENSP00000503718.1:p.Ser429= | |
| ENST00000679076.1:c.1067G= | ||
| ENST00000679111.1:c.*204G= | ENSP00000504257.1:n.*204G= | |
| ENST00000679189.1:c.1097G= | ENSP00000503356.1:p.Ser366= | |
| ENST00000341012.11:c.1286G= | ENSP00000343034.7:p.Ser429= | |
| ENST00000372220.4:c.311G= | ENSP00000361294.4:p.Ser104= | |
| ENST00000372228.7:c.1514G= | ENSP00000361302.3:p.Ser505= | |
| ENST00000402686.7:c.1448G= | ENSP00000385797.3:p.Ser483= | |
| ENST00000404875.6:c.1097G= | ENSP00000384531.2:p.Ser366= | |
| ENST00000423007.5:c.1448G= | ENSP00000404119.1:p.Ser483= | |
| ENST00000467848.1:n.152G= | ||
| ENST00000485278.5:n.2003G= | ||
| NM_001077365.1:c.1448G= | NP_001070833.1:p.Ser483= | |
| NM_001077366.1:c.1286G= | NP_001070834.1:p.Ser429= | |
| NM_001136113.1:c.1448G= | NP_001129585.1:p.Ser483= | |
| NM_001136114.1:c.1097G= | NP_001129586.1:p.Ser366= | |
| NM_007171.3:c.1514G= | NP_009102.3:p.Ser505= | |
| XM_005272156.1:c.1514G= | XP_005272213.1:p.Ser505= | |
| XM_005272158.1:c.1352G= | XP_005272215.1:p.Ser451= | |
| XM_005272159.1:c.1163G= | XP_005272216.1:p.Ser388= | |
| XM_005272162.1:c.317G= | XP_005272219.1:p.Ser106= | |
| XM_006716932.1:c.1163G= | XP_006716995.1:p.Ser388= | |
| XM_011518140.1:c.1367G= | XP_011516442.1:p.Ser456= | |
| XM_011518141.1:c.1301G= | XP_011516443.1:p.Ser434= | |
| XM_011518142.1:c.1205G= | XP_011516444.1:p.Ser402= | |
| XM_011518143.1:c.1199G= | XP_011516445.1:p.Ser400= | |
| XM_011518145.1:c.1058G= | XP_011516447.1:p.Ser353= | |
| XM_011518147.1:c.386G= | XP_011516449.1:p.Ser129= | |
| XR_929703.1:n.1690G= | ||
| NM_001353193.1:c.1514G= | NP_001340122.1:p.Ser505= | |
| NM_001353194.1:c.1286G= | NP_001340123.1:p.Ser429= | |
| NM_001353195.1:c.1097G= | NP_001340124.1:p.Ser366= | |
| NM_001353196.1:c.1358G= | NP_001340125.1:p.Ser453= | |
| NM_001353197.1:c.1352G= | NP_001340126.1:p.Ser451= | |
| NM_001353198.1:c.1352G= | NP_001340127.1:p.Ser451= | |
| NM_001353199.1:c.1163G= | NP_001340128.1:p.Ser388= | |
| NM_001353200.1:c.992G= | NP_001340129.1:p.Ser331= | |
| NR_148391.1:n.1498G= | ||
| NR_148392.1:n.1716G= | ||
| NR_148393.1:n.1637G= | ||
| NR_148394.1:n.1391G= | ||
| NR_148395.1:n.1789G= | ||
| NR_148396.1:n.1423G= | ||
| NR_148397.1:n.1548G= | ||
| NR_148398.1:n.1503G= | ||
| NR_148399.1:n.2029G= | ||
| NR_148400.1:n.1628G= | ||
| XM_005272162.3:c.317G= | XP_005272219.1:p.Ser106= | |
| XM_006716932.2:c.1163G= | XP_006716995.1:p.Ser388= | |
| XM_011518140.2:c.1367G= | XP_011516442.1:p.Ser456= | |
| XM_011518141.2:c.1301G= | XP_011516443.1:p.Ser434= | |
| XM_011518142.2:c.1205G= | XP_011516444.1:p.Ser402= | |
| XM_011518143.2:c.1199G= | XP_011516445.1:p.Ser400= | |
| XM_011518145.2:c.1058G= | XP_011516447.1:p.Ser353= | |
| XM_017014205.2:c.317G= | XP_016869694.1:p.Ser106= | |
| XM_024447380.1:c.317G= | XP_024303148.1:p.Ser106= | |
| XM_024447381.1:c.623G= | XP_024303149.1:p.Ser208= | |
| XM_024447382.1:c.317G= | XP_024303150.1:p.Ser106= | |
| XR_001746160.2:n.1618G= | ||
| XR_001746162.2:n.1823G= | ||
| XR_001746164.1:n.1540G= | ||
| XR_001746166.2:n.1835G= | ||
| NM_001077365.2:c.1448G= MANE Select | NP_001070833.1:p.Ser483= | |
| NM_001077366.2:c.1286G= | NP_001070834.1:p.Ser429= | |
| NM_001136113.2:c.1448G= | NP_001129585.1:p.Ser483= | |
| NM_001136114.2:c.1097G= | NP_001129586.1:p.Ser366= | |
| NM_001353193.2:c.1514G= | NP_001340122.2:p.Ser505= | |
| NM_001353194.2:c.1286G= | NP_001340123.1:p.Ser429= | |
| NM_001353195.2:c.1097G= | NP_001340124.1:p.Ser366= | |
| NM_001353196.2:c.1358G= | NP_001340125.1:p.Ser453= | |
| NM_001353197.2:c.1352G= | NP_001340126.2:p.Ser451= | |
| NM_001353198.2:c.1352G= | NP_001340127.2:p.Ser451= | |
| NM_001353199.2:c.1163G= | NP_001340128.2:p.Ser388= | |
| NM_001353200.2:c.992G= | NP_001340129.1:p.Ser331= | |
| NM_001374689.1:c.1436G= | NP_001361618.1:p.Ser479= | |
| NM_001374690.1:c.1365+382G= | NP_001361619.1:n.1365+382G= | |
| NM_001374691.1:c.1097G= | NP_001361620.1:p.Ser366= | |
| NM_001374692.1:c.1097G= | NP_001361621.1:p.Ser366= | |
| NM_001374693.1:c.1097G= | NP_001361622.1:p.Ser366= | |
| NM_001374695.1:c.1058G= | NP_001361624.1:p.Ser353= | |
| NM_007171.4:c.1514G= | NP_009102.4:p.Ser505= | |
| NR_148391.2:n.1482G= | ||
| NR_148392.2:n.1700G= | ||
| NR_148393.2:n.1621G= | ||
| NR_148394.2:n.1375G= | ||
| NR_148395.2:n.1773G= | ||
| NR_148396.2:n.1407G= | ||
| NR_148397.2:n.1532G= | ||
| NR_148398.2:n.1487G= | ||
| NR_148399.2:n.2013G= | ||
| NR_148400.2:n.1612G= |