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.131518950C= , CM000671.2:g.131518950C= | GRCh38 |
| NC_000009.11:g.134394337C= , CM000671.1:g.134394337C= | GRCh37 |
| NC_000009.10:g.133384158C= | NCBI36 |
| NG_008896.1:g.21049C= | |
| NG_008896.2:g.21049C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1317C= | ENSP00000343034.7:p.Tyr439= | |
| ENST00000404875.7:n.2019C= | ||
| ENST00000423007.6:c.1536C= | ENSP00000404119.2:p.Tyr512= | |
| ENST00000677295.2:c.*1823C= | ENSP00000504346.2:n.*1823C= | |
| ENST00000678264.2:c.*1662C= | ENSP00000503157.2:n.*1662C= | |
| ENST00000682070.1:n.1944C= | ||
| ENST00000682539.1:c.417C= | ||
| ENST00000682813.1:n.1883C= | ||
| ENST00000683392.1:n.4226C= | ||
| ENST00000683712.1:n.1884C= | ||
| ENST00000683900.1:n.3379C= | ||
| ENST00000684062.1:n.2145C= | ||
| ENST00000684579.1:n.3325C= | ||
| ENST00000684679.1:n.706C= | ||
| ENST00000341012.12:c.1317C= | ENSP00000343034.7:p.Tyr439= | |
| ENST00000372220.5:c.348C= | ENSP00000361294.5:p.Tyr116= | |
| ENST00000372228.9:c.1545C= | ENSP00000361302.3:p.Tyr515= | |
| ENST00000402686.8:c.1479C= MANE Select | ENSP00000385797.4:p.Tyr493= | |
| ENST00000676640.1:c.1479C= | ENSP00000503281.1:p.Tyr493= | |
| ENST00000676803.1:c.654C= | ENSP00000503093.1:p.Tyr218= | |
| ENST00000676835.1:c.*694C= | ENSP00000502911.1:n.*694C= | |
| ENST00000677029.1:c.1023C= | ENSP00000502936.1:p.Tyr341= | |
| ENST00000677099.1:c.*1189C= | ENSP00000504553.1:n.*1189C= | |
| ENST00000677216.1:c.1128C= | ENSP00000503772.1:p.Tyr376= | |
| ENST00000677221.1:n.504C= | ||
| ENST00000677295.1:c.*856C= | ENSP00000504346.1:n.*856C= | |
| ENST00000677444.1:c.1424C= | ||
| ENST00000677586.1:n.960C= | ||
| ENST00000677626.1:c.1128C= | ENSP00000503552.1:p.Tyr376= | |
| ENST00000677677.1:n.1439C= | ||
| ENST00000677853.1:c.*487C= | ENSP00000503488.1:n.*487C= | |
| ENST00000678202.1:n.638C= | ||
| ENST00000678264.1:c.*856C= | ENSP00000503157.1:n.*856C= | |
| ENST00000678303.1:c.1389C= | ENSP00000503696.1:p.Tyr463= | |
| ENST00000678366.1:c.*1728C= | ENSP00000504353.1:n.*1728C= | |
| ENST00000678546.1:c.*1424C= | ENSP00000503062.1:n.*1424C= | |
| ENST00000678548.1:c.*1551C= | ENSP00000503934.1:n.*1551C= | |
| ENST00000678626.1:n.1315C= | ||
| ENST00000678733.1:c.560C= | ||
| ENST00000678739.1:c.*1805C= | ENSP00000503806.1:n.*1805C= | |
| ENST00000678833.1:c.*926C= | ENSP00000503893.1:n.*926C= | |
| ENST00000679023.1:c.1317C= | ENSP00000503718.1:p.Tyr439= | |
| ENST00000679076.1:c.1098C= | ||
| ENST00000679111.1:c.*235C= | ENSP00000504257.1:n.*235C= | |
| ENST00000679189.1:c.1128C= | ENSP00000503356.1:p.Tyr376= | |
| ENST00000341012.11:c.1317C= | ENSP00000343034.7:p.Tyr439= | |
| ENST00000372220.4:c.342C= | ENSP00000361294.4:p.Tyr114= | |
| ENST00000372228.7:c.1545C= | ENSP00000361302.3:p.Tyr515= | |
| ENST00000402686.7:c.1479C= | ENSP00000385797.3:p.Tyr493= | |
| ENST00000404875.6:c.1128C= | ENSP00000384531.2:p.Tyr376= | |
| ENST00000423007.5:c.1479C= | ENSP00000404119.1:p.Tyr493= | |
| ENST00000467848.1:n.183C= | ||
| ENST00000485278.5:n.2034C= | ||
| NM_001077365.1:c.1479C= | NP_001070833.1:p.Tyr493= | |
| NM_001077366.1:c.1317C= | NP_001070834.1:p.Tyr439= | |
| NM_001136113.1:c.1479C= | NP_001129585.1:p.Tyr493= | |
| NM_001136114.1:c.1128C= | NP_001129586.1:p.Tyr376= | |
| NM_007171.3:c.1545C= | NP_009102.3:p.Tyr515= | |
| XM_005272156.1:c.1545C= | XP_005272213.1:p.Tyr515= | |
| XM_005272158.1:c.1383C= | XP_005272215.1:p.Tyr461= | |
| XM_005272159.1:c.1194C= | XP_005272216.1:p.Tyr398= | |
| XM_005272162.1:c.348C= | XP_005272219.1:p.Tyr116= | |
| XM_006716932.1:c.1194C= | XP_006716995.1:p.Tyr398= | |
| XM_011518140.1:c.1398C= | XP_011516442.1:p.Tyr466= | |
| XM_011518141.1:c.1332C= | XP_011516443.1:p.Tyr444= | |
| XM_011518142.1:c.1236C= | XP_011516444.1:p.Tyr412= | |
| XM_011518143.1:c.1230C= | XP_011516445.1:p.Tyr410= | |
| XM_011518145.1:c.1089C= | XP_011516447.1:p.Tyr363= | |
| XM_011518147.1:c.417C= | XP_011516449.1:p.Tyr139= | |
| XR_929703.1:n.1721C= | ||
| NM_001353193.1:c.1545C= | NP_001340122.1:p.Tyr515= | |
| NM_001353194.1:c.1317C= | NP_001340123.1:p.Tyr439= | |
| NM_001353195.1:c.1128C= | NP_001340124.1:p.Tyr376= | |
| NM_001353196.1:c.1389C= | NP_001340125.1:p.Tyr463= | |
| NM_001353197.1:c.1383C= | NP_001340126.1:p.Tyr461= | |
| NM_001353198.1:c.1383C= | NP_001340127.1:p.Tyr461= | |
| NM_001353199.1:c.1194C= | NP_001340128.1:p.Tyr398= | |
| NM_001353200.1:c.1023C= | NP_001340129.1:p.Tyr341= | |
| NR_148391.1:n.1529C= | ||
| NR_148392.1:n.1747C= | ||
| NR_148393.1:n.1668C= | ||
| NR_148394.1:n.1422C= | ||
| NR_148395.1:n.1820C= | ||
| NR_148396.1:n.1454C= | ||
| NR_148397.1:n.1579C= | ||
| NR_148398.1:n.1534C= | ||
| NR_148399.1:n.2060C= | ||
| NR_148400.1:n.1659C= | ||
| XM_005272162.3:c.348C= | XP_005272219.1:p.Tyr116= | |
| XM_006716932.2:c.1194C= | XP_006716995.1:p.Tyr398= | |
| XM_011518140.2:c.1398C= | XP_011516442.1:p.Tyr466= | |
| XM_011518141.2:c.1332C= | XP_011516443.1:p.Tyr444= | |
| XM_011518142.2:c.1236C= | XP_011516444.1:p.Tyr412= | |
| XM_011518143.2:c.1230C= | XP_011516445.1:p.Tyr410= | |
| XM_011518145.2:c.1089C= | XP_011516447.1:p.Tyr363= | |
| XM_017014205.2:c.348C= | XP_016869694.1:p.Tyr116= | |
| XM_024447380.1:c.348C= | XP_024303148.1:p.Tyr116= | |
| XM_024447381.1:c.654C= | XP_024303149.1:p.Tyr218= | |
| XM_024447382.1:c.348C= | XP_024303150.1:p.Tyr116= | |
| XR_001746160.2:n.1649C= | ||
| XR_001746162.2:n.1854C= | ||
| XR_001746164.1:n.1571C= | ||
| XR_001746166.2:n.1866C= | ||
| NM_001077365.2:c.1479C= MANE Select | NP_001070833.1:p.Tyr493= | |
| NM_001077366.2:c.1317C= | NP_001070834.1:p.Tyr439= | |
| NM_001136113.2:c.1479C= | NP_001129585.1:p.Tyr493= | |
| NM_001136114.2:c.1128C= | NP_001129586.1:p.Tyr376= | |
| NM_001353193.2:c.1545C= | NP_001340122.2:p.Tyr515= | |
| NM_001353194.2:c.1317C= | NP_001340123.1:p.Tyr439= | |
| NM_001353195.2:c.1128C= | NP_001340124.1:p.Tyr376= | |
| NM_001353196.2:c.1389C= | NP_001340125.1:p.Tyr463= | |
| NM_001353197.2:c.1383C= | NP_001340126.2:p.Tyr461= | |
| NM_001353198.2:c.1383C= | NP_001340127.2:p.Tyr461= | |
| NM_001353199.2:c.1194C= | NP_001340128.2:p.Tyr398= | |
| NM_001353200.2:c.1023C= | NP_001340129.1:p.Tyr341= | |
| NM_001374689.1:c.1467C= | NP_001361618.1:p.Tyr489= | |
| NM_001374690.1:c.1365+413C= | NP_001361619.1:n.1365+413C= | |
| NM_001374691.1:c.1128C= | NP_001361620.1:p.Tyr376= | |
| NM_001374692.1:c.1128C= | NP_001361621.1:p.Tyr376= | |
| NM_001374693.1:c.1128C= | NP_001361622.1:p.Tyr376= | |
| NM_001374695.1:c.1089C= | NP_001361624.1:p.Tyr363= | |
| NM_007171.4:c.1545C= | NP_009102.4:p.Tyr515= | |
| NR_148391.2:n.1513C= | ||
| NR_148392.2:n.1731C= | ||
| NR_148393.2:n.1652C= | ||
| NR_148394.2:n.1406C= | ||
| NR_148395.2:n.1804C= | ||
| NR_148396.2:n.1438C= | ||
| NR_148397.2:n.1563C= | ||
| NR_148398.2:n.1518C= | ||
| NR_148399.2:n.2044C= | ||
| NR_148400.2:n.1643C= |