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.131522198G= , CM000671.2:g.131522198G= | GRCh38 |
| NC_000009.11:g.134397585G= , CM000671.1:g.134397585G= | GRCh37 |
| NC_000009.10:g.133387406G= | NCBI36 |
| NG_008896.1:g.24297G= | |
| NG_008896.2:g.24297G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1815G= | ENSP00000343034.7:p.Leu605= | |
| ENST00000404875.7:n.2517G= | ||
| ENST00000423007.6:c.2034G= | ENSP00000404119.2:p.Leu678= | |
| ENST00000677295.2:c.*2321G= | ENSP00000504346.2:n.*2321G= | |
| ENST00000678264.2:c.*2160G= | ENSP00000503157.2:n.*2160G= | |
| ENST00000682070.1:n.2291-4G= | ||
| ENST00000682813.1:n.2381G= | ||
| ENST00000683392.1:n.4573-4G= | ||
| ENST00000683712.1:n.2382G= | ||
| ENST00000683900.1:n.3877G= | ||
| ENST00000684062.1:n.2643G= | ||
| ENST00000684579.1:n.3823G= | ||
| ENST00000341012.12:c.1815G= | ENSP00000343034.7:p.Leu605= | |
| ENST00000372220.5:c.846G= | ENSP00000361294.5:p.Leu282= | |
| ENST00000372228.9:c.2043G= | ENSP00000361302.3:p.Leu681= | |
| ENST00000402686.8:c.1977G= MANE Select | ENSP00000385797.4:p.Leu659= | |
| ENST00000676640.1:c.1977G= | ENSP00000503281.1:p.Leu659= | |
| ENST00000676803.1:c.1038G= | ENSP00000503093.1:p.Leu346= | |
| ENST00000676835.1:c.*1192G= | ENSP00000502911.1:n.*1192G= | |
| ENST00000677029.1:c.1521G= | ENSP00000502936.1:p.Leu507= | |
| ENST00000677099.1:c.*1687G= | ENSP00000504553.1:n.*1687G= | |
| ENST00000677216.1:c.1626G= | ENSP00000503772.1:p.Leu542= | |
| ENST00000677221.1:n.1002G= | ||
| ENST00000677295.1:c.*1203-4G= | ENSP00000504346.1:n.*1203-4G= | |
| ENST00000677444.1:c.1922G= | ||
| ENST00000677586.1:n.1344G= | ||
| ENST00000677626.1:c.1626G= | ENSP00000503552.1:p.Leu542= | |
| ENST00000677853.1:c.*985G= | ENSP00000503488.1:n.*985G= | |
| ENST00000678264.1:c.*1354G= | ENSP00000503157.1:n.*1354G= | |
| ENST00000678303.1:c.1887G= | ENSP00000503696.1:p.Leu629= | |
| ENST00000678366.1:c.*2226G= | ENSP00000504353.1:n.*2226G= | |
| ENST00000678546.1:c.*1922G= | ENSP00000503062.1:n.*1922G= | |
| ENST00000678548.1:c.*2116G= | ENSP00000503934.1:n.*2116G= | |
| ENST00000678626.1:n.1813G= | ||
| ENST00000678739.1:c.*2147-4G= | ENSP00000503806.1:n.*2147-4G= | |
| ENST00000678833.1:c.*1729G= | ENSP00000503893.1:n.*1729G= | |
| ENST00000679023.1:c.1815G= | ENSP00000503718.1:p.Leu605= | |
| ENST00000679076.1:c.1596G= | ||
| ENST00000679111.1:c.*733G= | ENSP00000504257.1:n.*733G= | |
| ENST00000679189.1:c.1626G= | ENSP00000503356.1:p.Leu542= | |
| ENST00000341012.11:c.1815G= | ENSP00000343034.7:p.Leu605= | |
| ENST00000372220.4:c.840G= | ENSP00000361294.4:p.Leu280= | |
| ENST00000372228.7:c.2043G= | ENSP00000361302.3:p.Leu681= | |
| ENST00000402686.7:c.1977G= | ENSP00000385797.3:p.Leu659= | |
| ENST00000404875.6:c.1626G= | ENSP00000384531.2:p.Leu542= | |
| ENST00000423007.5:c.1977G= | ENSP00000404119.1:p.Leu659= | |
| ENST00000485278.5:n.2527G= | ||
| ENST00000494883.1:n.520G= | ||
| NM_001077365.1:c.1977G= | NP_001070833.1:p.Leu659= | |
| NM_001077366.1:c.1815G= | NP_001070834.1:p.Leu605= | |
| NM_001136113.1:c.1977G= | NP_001129585.1:p.Leu659= | |
| NM_001136114.1:c.1626G= | NP_001129586.1:p.Leu542= | |
| NM_007171.3:c.2043G= | NP_009102.3:p.Leu681= | |
| XM_005272156.1:c.2043G= | XP_005272213.1:p.Leu681= | |
| XM_005272158.1:c.1881G= | XP_005272215.1:p.Leu627= | |
| XM_005272159.1:c.1692G= | XP_005272216.1:p.Leu564= | |
| XM_005272162.1:c.846G= | XP_005272219.1:p.Leu282= | |
| XM_006716932.1:c.1692G= | XP_006716995.1:p.Leu564= | |
| XM_011518140.1:c.1896G= | XP_011516442.1:p.Leu632= | |
| XM_011518141.1:c.1830G= | XP_011516443.1:p.Leu610= | |
| XM_011518142.1:c.1734G= | XP_011516444.1:p.Leu578= | |
| XM_011518143.1:c.1728G= | XP_011516445.1:p.Leu576= | |
| XM_011518145.1:c.1587G= | XP_011516447.1:p.Leu529= | |
| XM_011518147.1:c.915G= | XP_011516449.1:p.Leu305= | |
| XR_929703.1:n.2219G= | ||
| NM_001353193.1:c.2043G= | NP_001340122.1:p.Leu681= | |
| NM_001353194.1:c.1815G= | NP_001340123.1:p.Leu605= | |
| NM_001353195.1:c.1626G= | NP_001340124.1:p.Leu542= | |
| NM_001353196.1:c.1887G= | NP_001340125.1:p.Leu629= | |
| NM_001353197.1:c.1881G= | NP_001340126.1:p.Leu627= | |
| NM_001353198.1:c.1881G= | NP_001340127.1:p.Leu627= | |
| NM_001353199.1:c.1692G= | NP_001340128.1:p.Leu564= | |
| NM_001353200.1:c.1521G= | NP_001340129.1:p.Leu507= | |
| NR_148391.1:n.2027G= | ||
| NR_148392.1:n.2245G= | ||
| NR_148393.1:n.2166G= | ||
| NR_148394.1:n.1920G= | ||
| NR_148395.1:n.2318G= | ||
| NR_148396.1:n.1952G= | ||
| NR_148397.1:n.2077G= | ||
| NR_148398.1:n.2032G= | ||
| NR_148399.1:n.2558G= | ||
| NR_148400.1:n.2157G= | ||
| XM_005272162.3:c.846G= | XP_005272219.1:p.Leu282= | |
| XM_006716932.2:c.1692G= | XP_006716995.1:p.Leu564= | |
| XM_011518140.2:c.1896G= | XP_011516442.1:p.Leu632= | |
| XM_011518141.2:c.1830G= | XP_011516443.1:p.Leu610= | |
| XM_011518142.2:c.1734G= | XP_011516444.1:p.Leu578= | |
| XM_011518143.2:c.1728G= | XP_011516445.1:p.Leu576= | |
| XM_011518145.2:c.1587G= | XP_011516447.1:p.Leu529= | |
| XM_017014205.2:c.846G= | XP_016869694.1:p.Leu282= | |
| XM_024447380.1:c.846G= | XP_024303148.1:p.Leu282= | |
| XM_024447381.1:c.1152G= | XP_024303149.1:p.Leu384= | |
| XM_024447382.1:c.846G= | XP_024303150.1:p.Leu282= | |
| XR_001746160.2:n.2147G= | ||
| XR_001746162.2:n.2352G= | ||
| XR_001746164.1:n.2069G= | ||
| XR_001746166.2:n.2364G= | ||
| NM_001077365.2:c.1977G= MANE Select | NP_001070833.1:p.Leu659= | |
| NM_001077366.2:c.1815G= | NP_001070834.1:p.Leu605= | |
| NM_001136113.2:c.1977G= | NP_001129585.1:p.Leu659= | |
| NM_001136114.2:c.1626G= | NP_001129586.1:p.Leu542= | |
| NM_001353193.2:c.2043G= | NP_001340122.2:p.Leu681= | |
| NM_001353194.2:c.1815G= | NP_001340123.1:p.Leu605= | |
| NM_001353195.2:c.1626G= | NP_001340124.1:p.Leu542= | |
| NM_001353196.2:c.1887G= | NP_001340125.1:p.Leu629= | |
| NM_001353197.2:c.1881G= | NP_001340126.2:p.Leu627= | |
| NM_001353198.2:c.1881G= | NP_001340127.2:p.Leu627= | |
| NM_001353199.2:c.1692G= | NP_001340128.2:p.Leu564= | |
| NM_001353200.2:c.1521G= | NP_001340129.1:p.Leu507= | |
| NM_001374689.1:c.1965G= | NP_001361618.1:p.Leu655= | |
| NM_001374690.1:c.1758G= | NP_001361619.1:p.Leu586= | |
| NM_001374691.1:c.1626G= | NP_001361620.1:p.Leu542= | |
| NM_001374692.1:c.1626G= | NP_001361621.1:p.Leu542= | |
| NM_001374693.1:c.1626G= | NP_001361622.1:p.Leu542= | |
| NM_001374695.1:c.1587G= | NP_001361624.1:p.Leu529= | |
| NM_007171.4:c.2043G= | NP_009102.4:p.Leu681= | |
| NR_148391.2:n.2011G= | ||
| NR_148392.2:n.2229G= | ||
| NR_148393.2:n.2150G= | ||
| NR_148394.2:n.1904G= | ||
| NR_148395.2:n.2302G= | ||
| NR_148396.2:n.1936G= | ||
| NR_148397.2:n.2061G= | ||
| NR_148398.2:n.2016G= | ||
| NR_148399.2:n.2542G= | ||
| NR_148400.2:n.2141G= |