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.131523012G= , CM000671.2:g.131523012G= | GRCh38 |
| NC_000009.11:g.134398399G= , CM000671.1:g.134398399G= | GRCh37 |
| NC_000009.10:g.133388220G= | NCBI36 |
| NG_008896.1:g.25111G= | |
| NG_008896.2:g.25111G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1922G= | ENSP00000343034.7:p.Arg641= | |
| ENST00000404875.7:n.2624G= | ||
| ENST00000423007.6:c.2141G= | ENSP00000404119.2:p.Arg714= | |
| ENST00000677295.2:c.*2428G= | ENSP00000504346.2:n.*2428G= | |
| ENST00000678264.2:c.*2267G= | ENSP00000503157.2:n.*2267G= | |
| ENST00000682070.1:n.2394G= | ||
| ENST00000682639.1:c.81G= | ||
| ENST00000682813.1:n.2481G= | ||
| ENST00000683231.1:c.81G= | ||
| ENST00000683392.1:n.4676G= | ||
| ENST00000683712.1:n.2489G= | ||
| ENST00000683900.1:n.3984G= | ||
| ENST00000684062.1:n.2750G= | ||
| ENST00000684399.1:c.81G= | ||
| ENST00000684579.1:n.3930G= | ||
| ENST00000341012.12:c.1922G= | ENSP00000343034.7:p.Arg641= | |
| ENST00000372220.5:c.953G= | ENSP00000361294.5:p.Arg318= | |
| ENST00000372228.9:c.2150G= | ENSP00000361302.3:p.Arg717= | |
| ENST00000402686.8:c.2084G= MANE Select | ENSP00000385797.4:p.Arg695= | |
| ENST00000676640.1:c.2084G= | ENSP00000503281.1:p.Arg695= | |
| ENST00000676803.1:c.1145G= | ENSP00000503093.1:p.Arg382= | |
| ENST00000676835.1:c.*1299G= | ENSP00000502911.1:n.*1299G= | |
| ENST00000677029.1:c.1628G= | ENSP00000502936.1:p.Arg543= | |
| ENST00000677099.1:c.*1794G= | ENSP00000504553.1:n.*1794G= | |
| ENST00000677216.1:c.1733G= | ENSP00000503772.1:p.Arg578= | |
| ENST00000677221.1:n.1109G= | ||
| ENST00000677295.1:c.*1306G= | ENSP00000504346.1:n.*1306G= | |
| ENST00000677444.1:c.2029G= | ||
| ENST00000677586.1:n.1451G= | ||
| ENST00000677626.1:c.1733G= | ENSP00000503552.1:p.Arg578= | |
| ENST00000677853.1:c.*1092G= | ENSP00000503488.1:n.*1092G= | |
| ENST00000678264.1:c.*1461G= | ENSP00000503157.1:n.*1461G= | |
| ENST00000678303.1:c.1994G= | ENSP00000503696.1:p.Arg665= | |
| ENST00000678366.1:c.*2333G= | ENSP00000504353.1:n.*2333G= | |
| ENST00000678546.1:c.*2029G= | ENSP00000503062.1:n.*2029G= | |
| ENST00000678548.1:c.*2223G= | ENSP00000503934.1:n.*2223G= | |
| ENST00000678626.1:n.1920G= | ||
| ENST00000678739.1:c.*2250G= | ENSP00000503806.1:n.*2250G= | |
| ENST00000678833.1:c.*1836G= | ENSP00000503893.1:n.*1836G= | |
| ENST00000679023.1:c.1922G= | ENSP00000503718.1:p.Arg641= | |
| ENST00000679076.1:c.1703G= | ||
| ENST00000679111.1:c.*840G= | ENSP00000504257.1:n.*840G= | |
| ENST00000679189.1:c.1733G= | ENSP00000503356.1:p.Arg578= | |
| ENST00000341012.11:c.1922G= | ENSP00000343034.7:p.Arg641= | |
| ENST00000372220.4:c.947G= | ENSP00000361294.4:p.Arg316= | |
| ENST00000372228.7:c.2150G= | ENSP00000361302.3:p.Arg717= | |
| ENST00000402686.7:c.2084G= | ENSP00000385797.3:p.Arg695= | |
| ENST00000404875.6:c.1733G= | ENSP00000384531.2:p.Arg578= | |
| ENST00000423007.5:c.2084G= | ENSP00000404119.1:p.Arg695= | |
| ENST00000485278.5:n.2634G= | ||
| NM_001077365.1:c.2084G= | NP_001070833.1:p.Arg695= | |
| NM_001077366.1:c.1922G= | NP_001070834.1:p.Arg641= | |
| NM_001136113.1:c.2084G= | NP_001129585.1:p.Arg695= | |
| NM_001136114.1:c.1733G= | NP_001129586.1:p.Arg578= | |
| NM_007171.3:c.2150G= | NP_009102.3:p.Arg717= | |
| XM_005272156.1:c.2150G= | XP_005272213.1:p.Arg717= | |
| XM_005272158.1:c.1988G= | XP_005272215.1:p.Arg663= | |
| XM_005272159.1:c.1799G= | XP_005272216.1:p.Arg600= | |
| XM_005272162.1:c.953G= | XP_005272219.1:p.Arg318= | |
| XM_006716932.1:c.1799G= | XP_006716995.1:p.Arg600= | |
| XM_011518140.1:c.2003G= | XP_011516442.1:p.Arg668= | |
| XM_011518141.1:c.1937G= | XP_011516443.1:p.Arg646= | |
| XM_011518142.1:c.1841G= | XP_011516444.1:p.Arg614= | |
| XM_011518143.1:c.1835G= | XP_011516445.1:p.Arg612= | |
| XM_011518145.1:c.1694G= | XP_011516447.1:p.Arg565= | |
| XM_011518147.1:c.1022G= | XP_011516449.1:p.Arg341= | |
| XR_929703.1:n.2326G= | ||
| NM_001353193.1:c.2150G= | NP_001340122.1:p.Arg717= | |
| NM_001353194.1:c.1922G= | NP_001340123.1:p.Arg641= | |
| NM_001353195.1:c.1733G= | NP_001340124.1:p.Arg578= | |
| NM_001353196.1:c.1994G= | NP_001340125.1:p.Arg665= | |
| NM_001353197.1:c.1988G= | NP_001340126.1:p.Arg663= | |
| NM_001353198.1:c.1988G= | NP_001340127.1:p.Arg663= | |
| NM_001353199.1:c.1799G= | NP_001340128.1:p.Arg600= | |
| NM_001353200.1:c.1628G= | NP_001340129.1:p.Arg543= | |
| NR_148391.1:n.2134G= | ||
| NR_148392.1:n.2352G= | ||
| NR_148393.1:n.2273G= | ||
| NR_148394.1:n.2027G= | ||
| NR_148395.1:n.2425G= | ||
| NR_148396.1:n.2059G= | ||
| NR_148397.1:n.2184G= | ||
| NR_148398.1:n.2139G= | ||
| NR_148399.1:n.2665G= | ||
| NR_148400.1:n.2264G= | ||
| XM_005272162.3:c.953G= | XP_005272219.1:p.Arg318= | |
| XM_006716932.2:c.1799G= | XP_006716995.1:p.Arg600= | |
| XM_011518140.2:c.2003G= | XP_011516442.1:p.Arg668= | |
| XM_011518141.2:c.1937G= | XP_011516443.1:p.Arg646= | |
| XM_011518142.2:c.1841G= | XP_011516444.1:p.Arg614= | |
| XM_011518143.2:c.1835G= | XP_011516445.1:p.Arg612= | |
| XM_011518145.2:c.1694G= | XP_011516447.1:p.Arg565= | |
| XM_017014205.2:c.953G= | XP_016869694.1:p.Arg318= | |
| XM_024447380.1:c.953G= | XP_024303148.1:p.Arg318= | |
| XM_024447381.1:c.1259G= | XP_024303149.1:p.Arg420= | |
| XM_024447382.1:c.953G= | XP_024303150.1:p.Arg318= | |
| XR_001746160.2:n.2254G= | ||
| XR_001746162.2:n.2459G= | ||
| XR_001746164.1:n.2176G= | ||
| XR_001746166.2:n.2471G= | ||
| NM_001077365.2:c.2084G= MANE Select | NP_001070833.1:p.Arg695= | |
| NM_001077366.2:c.1922G= | NP_001070834.1:p.Arg641= | |
| NM_001136113.2:c.2084G= | NP_001129585.1:p.Arg695= | |
| NM_001136114.2:c.1733G= | NP_001129586.1:p.Arg578= | |
| NM_001353193.2:c.2150G= | NP_001340122.2:p.Arg717= | |
| NM_001353194.2:c.1922G= | NP_001340123.1:p.Arg641= | |
| NM_001353195.2:c.1733G= | NP_001340124.1:p.Arg578= | |
| NM_001353196.2:c.1994G= | NP_001340125.1:p.Arg665= | |
| NM_001353197.2:c.1988G= | NP_001340126.2:p.Arg663= | |
| NM_001353198.2:c.1988G= | NP_001340127.2:p.Arg663= | |
| NM_001353199.2:c.1799G= | NP_001340128.2:p.Arg600= | |
| NM_001353200.2:c.1628G= | NP_001340129.1:p.Arg543= | |
| NM_001374689.1:c.2072G= | NP_001361618.1:p.Arg691= | |
| NM_001374690.1:c.1865G= | NP_001361619.1:p.Arg622= | |
| NM_001374691.1:c.1733G= | NP_001361620.1:p.Arg578= | |
| NM_001374692.1:c.1733G= | NP_001361621.1:p.Arg578= | |
| NM_001374693.1:c.1733G= | NP_001361622.1:p.Arg578= | |
| NM_001374695.1:c.1694G= | NP_001361624.1:p.Arg565= | |
| NM_007171.4:c.2150G= | NP_009102.4:p.Arg717= | |
| NR_148391.2:n.2118G= | ||
| NR_148392.2:n.2336G= | ||
| NR_148393.2:n.2257G= | ||
| NR_148394.2:n.2011G= | ||
| NR_148395.2:n.2409G= | ||
| NR_148396.2:n.2043G= | ||
| NR_148397.2:n.2168G= | ||
| NR_148398.2:n.2123G= | ||
| NR_148399.2:n.2649G= | ||
| NR_148400.2:n.2248G= |