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.131521470A= , CM000671.2:g.131521470A= | GRCh38 |
| NC_000009.11:g.134396857A= , CM000671.1:g.134396857A= | GRCh37 |
| NC_000009.10:g.133386678A= | NCBI36 |
| NG_008896.1:g.23569A= | |
| NG_008896.2:g.23569A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1661A= | ENSP00000343034.7:p.Gln554= | |
| ENST00000404875.7:n.2363A= | ||
| ENST00000423007.6:c.1880A= | ENSP00000404119.2:p.Gln627= | |
| ENST00000677295.2:c.*2167A= | ENSP00000504346.2:n.*2167A= | |
| ENST00000678264.2:c.*2006A= | ENSP00000503157.2:n.*2006A= | |
| ENST00000682070.1:n.2288A= | ||
| ENST00000682813.1:n.2227A= | ||
| ENST00000683392.1:n.4570A= | ||
| ENST00000683712.1:n.2228A= | ||
| ENST00000683900.1:n.3723A= | ||
| ENST00000684062.1:n.2489A= | ||
| ENST00000684579.1:n.3669A= | ||
| ENST00000684679.1:n.1050A= | ||
| ENST00000341012.12:c.1661A= | ENSP00000343034.7:p.Gln554= | |
| ENST00000372220.5:c.692A= | ENSP00000361294.5:p.Gln231= | |
| ENST00000372228.9:c.1889A= | ENSP00000361302.3:p.Gln630= | |
| ENST00000402686.8:c.1823A= MANE Select | ENSP00000385797.4:p.Gln608= | |
| ENST00000676640.1:c.1823A= | ENSP00000503281.1:p.Gln608= | |
| ENST00000676803.1:c.884A= | ENSP00000503093.1:p.Gln295= | |
| ENST00000676835.1:c.*1038A= | ENSP00000502911.1:n.*1038A= | |
| ENST00000677029.1:c.1367A= | ENSP00000502936.1:p.Gln456= | |
| ENST00000677099.1:c.*1533A= | ENSP00000504553.1:n.*1533A= | |
| ENST00000677216.1:c.1472A= | ENSP00000503772.1:p.Gln491= | |
| ENST00000677221.1:n.848A= | ||
| ENST00000677295.1:c.*1200A= | ENSP00000504346.1:n.*1200A= | |
| ENST00000677444.1:c.1768A= | ||
| ENST00000677586.1:n.1190A= | ||
| ENST00000677626.1:c.1472A= | ENSP00000503552.1:p.Gln491= | |
| ENST00000677853.1:c.*831A= | ENSP00000503488.1:n.*831A= | |
| ENST00000678202.1:n.982A= | ||
| ENST00000678264.1:c.*1200A= | ENSP00000503157.1:n.*1200A= | |
| ENST00000678303.1:c.1733A= | ENSP00000503696.1:p.Gln578= | |
| ENST00000678366.1:c.*2072A= | ENSP00000504353.1:n.*2072A= | |
| ENST00000678546.1:c.*1768A= | ENSP00000503062.1:n.*1768A= | |
| ENST00000678548.1:c.*1895A= | ENSP00000503934.1:n.*1895A= | |
| ENST00000678626.1:n.1659A= | ||
| ENST00000678739.1:c.*2144A= | ENSP00000503806.1:n.*2144A= | |
| ENST00000678833.1:c.*1575A= | ENSP00000503893.1:n.*1575A= | |
| ENST00000679023.1:c.1661A= | ENSP00000503718.1:p.Gln554= | |
| ENST00000679076.1:c.1442A= | ||
| ENST00000679111.1:c.*579A= | ENSP00000504257.1:n.*579A= | |
| ENST00000679189.1:c.1472A= | ENSP00000503356.1:p.Gln491= | |
| ENST00000341012.11:c.1661A= | ENSP00000343034.7:p.Gln554= | |
| ENST00000372220.4:c.686A= | ENSP00000361294.4:p.Gln229= | |
| ENST00000372228.7:c.1889A= | ENSP00000361302.3:p.Gln630= | |
| ENST00000402686.7:c.1823A= | ENSP00000385797.3:p.Gln608= | |
| ENST00000404875.6:c.1472A= | ENSP00000384531.2:p.Gln491= | |
| ENST00000423007.5:c.1823A= | ENSP00000404119.1:p.Gln608= | |
| ENST00000485278.5:n.2373A= | ||
| ENST00000494883.1:n.366A= | ||
| NM_001077365.1:c.1823A= | NP_001070833.1:p.Gln608= | |
| NM_001077366.1:c.1661A= | NP_001070834.1:p.Gln554= | |
| NM_001136113.1:c.1823A= | NP_001129585.1:p.Gln608= | |
| NM_001136114.1:c.1472A= | NP_001129586.1:p.Gln491= | |
| NM_007171.3:c.1889A= | NP_009102.3:p.Gln630= | |
| XM_005272156.1:c.1889A= | XP_005272213.1:p.Gln630= | |
| XM_005272158.1:c.1727A= | XP_005272215.1:p.Gln576= | |
| XM_005272159.1:c.1538A= | XP_005272216.1:p.Gln513= | |
| XM_005272162.1:c.692A= | XP_005272219.1:p.Gln231= | |
| XM_006716932.1:c.1538A= | XP_006716995.1:p.Gln513= | |
| XM_011518140.1:c.1742A= | XP_011516442.1:p.Gln581= | |
| XM_011518141.1:c.1676A= | XP_011516443.1:p.Gln559= | |
| XM_011518142.1:c.1580A= | XP_011516444.1:p.Gln527= | |
| XM_011518143.1:c.1574A= | XP_011516445.1:p.Gln525= | |
| XM_011518145.1:c.1433A= | XP_011516447.1:p.Gln478= | |
| XM_011518147.1:c.761A= | XP_011516449.1:p.Gln254= | |
| XR_929703.1:n.2065A= | ||
| NM_001353193.1:c.1889A= | NP_001340122.1:p.Gln630= | |
| NM_001353194.1:c.1661A= | NP_001340123.1:p.Gln554= | |
| NM_001353195.1:c.1472A= | NP_001340124.1:p.Gln491= | |
| NM_001353196.1:c.1733A= | NP_001340125.1:p.Gln578= | |
| NM_001353197.1:c.1727A= | NP_001340126.1:p.Gln576= | |
| NM_001353198.1:c.1727A= | NP_001340127.1:p.Gln576= | |
| NM_001353199.1:c.1538A= | NP_001340128.1:p.Gln513= | |
| NM_001353200.1:c.1367A= | NP_001340129.1:p.Gln456= | |
| NR_148391.1:n.1873A= | ||
| NR_148392.1:n.2091A= | ||
| NR_148393.1:n.2012A= | ||
| NR_148394.1:n.1766A= | ||
| NR_148395.1:n.2164A= | ||
| NR_148396.1:n.1798A= | ||
| NR_148397.1:n.1923A= | ||
| NR_148398.1:n.1878A= | ||
| NR_148399.1:n.2404A= | ||
| NR_148400.1:n.2003A= | ||
| XM_005272162.3:c.692A= | XP_005272219.1:p.Gln231= | |
| XM_006716932.2:c.1538A= | XP_006716995.1:p.Gln513= | |
| XM_011518140.2:c.1742A= | XP_011516442.1:p.Gln581= | |
| XM_011518141.2:c.1676A= | XP_011516443.1:p.Gln559= | |
| XM_011518142.2:c.1580A= | XP_011516444.1:p.Gln527= | |
| XM_011518143.2:c.1574A= | XP_011516445.1:p.Gln525= | |
| XM_011518145.2:c.1433A= | XP_011516447.1:p.Gln478= | |
| XM_017014205.2:c.692A= | XP_016869694.1:p.Gln231= | |
| XM_024447380.1:c.692A= | XP_024303148.1:p.Gln231= | |
| XM_024447381.1:c.998A= | XP_024303149.1:p.Gln333= | |
| XM_024447382.1:c.692A= | XP_024303150.1:p.Gln231= | |
| XR_001746160.2:n.1993A= | ||
| XR_001746162.2:n.2198A= | ||
| XR_001746164.1:n.1915A= | ||
| XR_001746166.2:n.2210A= | ||
| NM_001077365.2:c.1823A= MANE Select | NP_001070833.1:p.Gln608= | |
| NM_001077366.2:c.1661A= | NP_001070834.1:p.Gln554= | |
| NM_001136113.2:c.1823A= | NP_001129585.1:p.Gln608= | |
| NM_001136114.2:c.1472A= | NP_001129586.1:p.Gln491= | |
| NM_001353193.2:c.1889A= | NP_001340122.2:p.Gln630= | |
| NM_001353194.2:c.1661A= | NP_001340123.1:p.Gln554= | |
| NM_001353195.2:c.1472A= | NP_001340124.1:p.Gln491= | |
| NM_001353196.2:c.1733A= | NP_001340125.1:p.Gln578= | |
| NM_001353197.2:c.1727A= | NP_001340126.2:p.Gln576= | |
| NM_001353198.2:c.1727A= | NP_001340127.2:p.Gln576= | |
| NM_001353199.2:c.1538A= | NP_001340128.2:p.Gln513= | |
| NM_001353200.2:c.1367A= | NP_001340129.1:p.Gln456= | |
| NM_001374689.1:c.1811A= | NP_001361618.1:p.Gln604= | |
| NM_001374690.1:c.1604A= | NP_001361619.1:p.Gln535= | |
| NM_001374691.1:c.1472A= | NP_001361620.1:p.Gln491= | |
| NM_001374692.1:c.1472A= | NP_001361621.1:p.Gln491= | |
| NM_001374693.1:c.1472A= | NP_001361622.1:p.Gln491= | |
| NM_001374695.1:c.1433A= | NP_001361624.1:p.Gln478= | |
| NM_007171.4:c.1889A= | NP_009102.4:p.Gln630= | |
| NR_148391.2:n.1857A= | ||
| NR_148392.2:n.2075A= | ||
| NR_148393.2:n.1996A= | ||
| NR_148394.2:n.1750A= | ||
| NR_148395.2:n.2148A= | ||
| NR_148396.2:n.1782A= | ||
| NR_148397.2:n.1907A= | ||
| NR_148398.2:n.1862A= | ||
| NR_148399.2:n.2388A= | ||
| NR_148400.2:n.1987A= |