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.131521352A= , CM000671.2:g.131521352A= | GRCh38 |
| NC_000009.11:g.134396739A= , CM000671.1:g.134396739A= | GRCh37 |
| NC_000009.10:g.133386560A= | NCBI36 |
| NG_008896.1:g.23451A= | |
| NG_008896.2:g.23451A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1543A= | ENSP00000343034.7:p.Ile515= | |
| ENST00000404875.7:n.2245A= | ||
| ENST00000423007.6:c.1762A= | ENSP00000404119.2:p.Ile588= | |
| ENST00000677295.2:c.*2049A= | ENSP00000504346.2:n.*2049A= | |
| ENST00000678264.2:c.*1888A= | ENSP00000503157.2:n.*1888A= | |
| ENST00000682070.1:n.2170A= | ||
| ENST00000682813.1:n.2109A= | ||
| ENST00000683392.1:n.4452A= | ||
| ENST00000683712.1:n.2110A= | ||
| ENST00000683900.1:n.3605A= | ||
| ENST00000684062.1:n.2371A= | ||
| ENST00000684579.1:n.3551A= | ||
| ENST00000684679.1:n.932A= | ||
| ENST00000341012.12:c.1543A= | ENSP00000343034.7:p.Ile515= | |
| ENST00000372220.5:c.574A= | ENSP00000361294.5:p.Ile192= | |
| ENST00000372228.9:c.1771A= | ENSP00000361302.3:p.Ile591= | |
| ENST00000402686.8:c.1705A= MANE Select | ENSP00000385797.4:p.Ile569= | |
| ENST00000676640.1:c.1705A= | ENSP00000503281.1:p.Ile569= | |
| ENST00000676803.1:c.766A= | ENSP00000503093.1:p.Ile256= | |
| ENST00000676835.1:c.*920A= | ENSP00000502911.1:n.*920A= | |
| ENST00000677029.1:c.1249A= | ENSP00000502936.1:p.Ile417= | |
| ENST00000677099.1:c.*1415A= | ENSP00000504553.1:n.*1415A= | |
| ENST00000677216.1:c.1354A= | ENSP00000503772.1:p.Ile452= | |
| ENST00000677221.1:n.730A= | ||
| ENST00000677295.1:c.*1082A= | ENSP00000504346.1:n.*1082A= | |
| ENST00000677444.1:c.1650A= | ||
| ENST00000677586.1:n.1072A= | ||
| ENST00000677626.1:c.1354A= | ENSP00000503552.1:p.Ile452= | |
| ENST00000677853.1:c.*713A= | ENSP00000503488.1:n.*713A= | |
| ENST00000678202.1:n.864A= | ||
| ENST00000678264.1:c.*1082A= | ENSP00000503157.1:n.*1082A= | |
| ENST00000678303.1:c.1615A= | ENSP00000503696.1:p.Ile539= | |
| ENST00000678366.1:c.*1954A= | ENSP00000504353.1:n.*1954A= | |
| ENST00000678546.1:c.*1650A= | ENSP00000503062.1:n.*1650A= | |
| ENST00000678548.1:c.*1777A= | ENSP00000503934.1:n.*1777A= | |
| ENST00000678626.1:n.1541A= | ||
| ENST00000678739.1:c.*2026A= | ENSP00000503806.1:n.*2026A= | |
| ENST00000678833.1:c.*1457A= | ENSP00000503893.1:n.*1457A= | |
| ENST00000679023.1:c.1543A= | ENSP00000503718.1:p.Ile515= | |
| ENST00000679076.1:c.1324A= | ||
| ENST00000679111.1:c.*461A= | ENSP00000504257.1:n.*461A= | |
| ENST00000679189.1:c.1354A= | ENSP00000503356.1:p.Ile452= | |
| ENST00000341012.11:c.1543A= | ENSP00000343034.7:p.Ile515= | |
| ENST00000372220.4:c.568A= | ENSP00000361294.4:p.Ile190= | |
| ENST00000372228.7:c.1771A= | ENSP00000361302.3:p.Ile591= | |
| ENST00000402686.7:c.1705A= | ENSP00000385797.3:p.Ile569= | |
| ENST00000404875.6:c.1354A= | ENSP00000384531.2:p.Ile452= | |
| ENST00000423007.5:c.1705A= | ENSP00000404119.1:p.Ile569= | |
| ENST00000467848.1:n.409A= | ||
| ENST00000485278.5:n.2255A= | ||
| ENST00000494883.1:n.248A= | ||
| NM_001077365.1:c.1705A= | NP_001070833.1:p.Ile569= | |
| NM_001077366.1:c.1543A= | NP_001070834.1:p.Ile515= | |
| NM_001136113.1:c.1705A= | NP_001129585.1:p.Ile569= | |
| NM_001136114.1:c.1354A= | NP_001129586.1:p.Ile452= | |
| NM_007171.3:c.1771A= | NP_009102.3:p.Ile591= | |
| XM_005272156.1:c.1771A= | XP_005272213.1:p.Ile591= | |
| XM_005272158.1:c.1609A= | XP_005272215.1:p.Ile537= | |
| XM_005272159.1:c.1420A= | XP_005272216.1:p.Ile474= | |
| XM_005272162.1:c.574A= | XP_005272219.1:p.Ile192= | |
| XM_006716932.1:c.1420A= | XP_006716995.1:p.Ile474= | |
| XM_011518140.1:c.1624A= | XP_011516442.1:p.Ile542= | |
| XM_011518141.1:c.1558A= | XP_011516443.1:p.Ile520= | |
| XM_011518142.1:c.1462A= | XP_011516444.1:p.Ile488= | |
| XM_011518143.1:c.1456A= | XP_011516445.1:p.Ile486= | |
| XM_011518145.1:c.1315A= | XP_011516447.1:p.Ile439= | |
| XM_011518147.1:c.643A= | XP_011516449.1:p.Ile215= | |
| XR_929703.1:n.1947A= | ||
| NM_001353193.1:c.1771A= | NP_001340122.1:p.Ile591= | |
| NM_001353194.1:c.1543A= | NP_001340123.1:p.Ile515= | |
| NM_001353195.1:c.1354A= | NP_001340124.1:p.Ile452= | |
| NM_001353196.1:c.1615A= | NP_001340125.1:p.Ile539= | |
| NM_001353197.1:c.1609A= | NP_001340126.1:p.Ile537= | |
| NM_001353198.1:c.1609A= | NP_001340127.1:p.Ile537= | |
| NM_001353199.1:c.1420A= | NP_001340128.1:p.Ile474= | |
| NM_001353200.1:c.1249A= | NP_001340129.1:p.Ile417= | |
| NR_148391.1:n.1755A= | ||
| NR_148392.1:n.1973A= | ||
| NR_148393.1:n.1894A= | ||
| NR_148394.1:n.1648A= | ||
| NR_148395.1:n.2046A= | ||
| NR_148396.1:n.1680A= | ||
| NR_148397.1:n.1805A= | ||
| NR_148398.1:n.1760A= | ||
| NR_148399.1:n.2286A= | ||
| NR_148400.1:n.1885A= | ||
| XM_005272162.3:c.574A= | XP_005272219.1:p.Ile192= | |
| XM_006716932.2:c.1420A= | XP_006716995.1:p.Ile474= | |
| XM_011518140.2:c.1624A= | XP_011516442.1:p.Ile542= | |
| XM_011518141.2:c.1558A= | XP_011516443.1:p.Ile520= | |
| XM_011518142.2:c.1462A= | XP_011516444.1:p.Ile488= | |
| XM_011518143.2:c.1456A= | XP_011516445.1:p.Ile486= | |
| XM_011518145.2:c.1315A= | XP_011516447.1:p.Ile439= | |
| XM_017014205.2:c.574A= | XP_016869694.1:p.Ile192= | |
| XM_024447380.1:c.574A= | XP_024303148.1:p.Ile192= | |
| XM_024447381.1:c.880A= | XP_024303149.1:p.Ile294= | |
| XM_024447382.1:c.574A= | XP_024303150.1:p.Ile192= | |
| XR_001746160.2:n.1875A= | ||
| XR_001746162.2:n.2080A= | ||
| XR_001746164.1:n.1797A= | ||
| XR_001746166.2:n.2092A= | ||
| NM_001077365.2:c.1705A= MANE Select | NP_001070833.1:p.Ile569= | |
| NM_001077366.2:c.1543A= | NP_001070834.1:p.Ile515= | |
| NM_001136113.2:c.1705A= | NP_001129585.1:p.Ile569= | |
| NM_001136114.2:c.1354A= | NP_001129586.1:p.Ile452= | |
| NM_001353193.2:c.1771A= | NP_001340122.2:p.Ile591= | |
| NM_001353194.2:c.1543A= | NP_001340123.1:p.Ile515= | |
| NM_001353195.2:c.1354A= | NP_001340124.1:p.Ile452= | |
| NM_001353196.2:c.1615A= | NP_001340125.1:p.Ile539= | |
| NM_001353197.2:c.1609A= | NP_001340126.2:p.Ile537= | |
| NM_001353198.2:c.1609A= | NP_001340127.2:p.Ile537= | |
| NM_001353199.2:c.1420A= | NP_001340128.2:p.Ile474= | |
| NM_001353200.2:c.1249A= | NP_001340129.1:p.Ile417= | |
| NM_001374689.1:c.1693A= | NP_001361618.1:p.Ile565= | |
| NM_001374690.1:c.1486A= | NP_001361619.1:p.Ile496= | |
| NM_001374691.1:c.1354A= | NP_001361620.1:p.Ile452= | |
| NM_001374692.1:c.1354A= | NP_001361621.1:p.Ile452= | |
| NM_001374693.1:c.1354A= | NP_001361622.1:p.Ile452= | |
| NM_001374695.1:c.1315A= | NP_001361624.1:p.Ile439= | |
| NM_007171.4:c.1771A= | NP_009102.4:p.Ile591= | |
| NR_148391.2:n.1739A= | ||
| NR_148392.2:n.1957A= | ||
| NR_148393.2:n.1878A= | ||
| NR_148394.2:n.1632A= | ||
| NR_148395.2:n.2030A= | ||
| NR_148396.2:n.1664A= | ||
| NR_148397.2:n.1789A= | ||
| NR_148398.2:n.1744A= | ||
| NR_148399.2:n.2270A= | ||
| NR_148400.2:n.1869A= |