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.131522097G= , CM000671.2:g.131522097G= | GRCh38 |
| NC_000009.11:g.134397484G= , CM000671.1:g.134397484G= | GRCh37 |
| NC_000009.10:g.133387305G= | NCBI36 |
| NG_008896.1:g.24196G= | |
| NG_008896.2:g.24196G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1714G= | ENSP00000343034.7:p.Ala572= | |
| ENST00000404875.7:n.2416G= | ||
| ENST00000423007.6:c.1933G= | ENSP00000404119.2:p.Ala645= | |
| ENST00000677295.2:c.*2220G= | ENSP00000504346.2:n.*2220G= | |
| ENST00000678264.2:c.*2059G= | ENSP00000503157.2:n.*2059G= | |
| ENST00000682070.1:n.2291-105G= | ||
| ENST00000682813.1:n.2280G= | ||
| ENST00000683392.1:n.4573-105G= | ||
| ENST00000683712.1:n.2281G= | ||
| ENST00000683900.1:n.3776G= | ||
| ENST00000684062.1:n.2542G= | ||
| ENST00000684579.1:n.3722G= | ||
| ENST00000684679.1:n.1103G= | ||
| ENST00000341012.12:c.1714G= | ENSP00000343034.7:p.Ala572= | |
| ENST00000372220.5:c.745G= | ENSP00000361294.5:p.Ala249= | |
| ENST00000372228.9:c.1942G= | ENSP00000361302.3:p.Ala648= | |
| ENST00000402686.8:c.1876G= MANE Select | ENSP00000385797.4:p.Ala626= | |
| ENST00000676640.1:c.1876G= | ENSP00000503281.1:p.Ala626= | |
| ENST00000676803.1:c.937G= | ENSP00000503093.1:p.Ala313= | |
| ENST00000676835.1:c.*1091G= | ENSP00000502911.1:n.*1091G= | |
| ENST00000677029.1:c.1420G= | ENSP00000502936.1:p.Ala474= | |
| ENST00000677099.1:c.*1586G= | ENSP00000504553.1:n.*1586G= | |
| ENST00000677216.1:c.1525G= | ENSP00000503772.1:p.Ala509= | |
| ENST00000677221.1:n.901G= | ||
| ENST00000677295.1:c.*1203-105G= | ENSP00000504346.1:n.*1203-105G= | |
| ENST00000677444.1:c.1821G= | ||
| ENST00000677586.1:n.1243G= | ||
| ENST00000677626.1:c.1525G= | ENSP00000503552.1:p.Ala509= | |
| ENST00000677853.1:c.*884G= | ENSP00000503488.1:n.*884G= | |
| ENST00000678202.1:n.1035G= | ||
| ENST00000678264.1:c.*1253G= | ENSP00000503157.1:n.*1253G= | |
| ENST00000678303.1:c.1786G= | ENSP00000503696.1:p.Ala596= | |
| ENST00000678366.1:c.*2125G= | ENSP00000504353.1:n.*2125G= | |
| ENST00000678546.1:c.*1821G= | ENSP00000503062.1:n.*1821G= | |
| ENST00000678548.1:c.*2015G= | ENSP00000503934.1:n.*2015G= | |
| ENST00000678626.1:n.1712G= | ||
| ENST00000678739.1:c.*2147-105G= | ENSP00000503806.1:n.*2147-105G= | |
| ENST00000678833.1:c.*1628G= | ENSP00000503893.1:n.*1628G= | |
| ENST00000679023.1:c.1714G= | ENSP00000503718.1:p.Ala572= | |
| ENST00000679076.1:c.1495G= | ||
| ENST00000679111.1:c.*632G= | ENSP00000504257.1:n.*632G= | |
| ENST00000679189.1:c.1525G= | ENSP00000503356.1:p.Ala509= | |
| ENST00000341012.11:c.1714G= | ENSP00000343034.7:p.Ala572= | |
| ENST00000372220.4:c.739G= | ENSP00000361294.4:p.Ala247= | |
| ENST00000372228.7:c.1942G= | ENSP00000361302.3:p.Ala648= | |
| ENST00000402686.7:c.1876G= | ENSP00000385797.3:p.Ala626= | |
| ENST00000404875.6:c.1525G= | ENSP00000384531.2:p.Ala509= | |
| ENST00000423007.5:c.1876G= | ENSP00000404119.1:p.Ala626= | |
| ENST00000485278.5:n.2426G= | ||
| ENST00000494883.1:n.419G= | ||
| NM_001077365.1:c.1876G= | NP_001070833.1:p.Ala626= | |
| NM_001077366.1:c.1714G= | NP_001070834.1:p.Ala572= | |
| NM_001136113.1:c.1876G= | NP_001129585.1:p.Ala626= | |
| NM_001136114.1:c.1525G= | NP_001129586.1:p.Ala509= | |
| NM_007171.3:c.1942G= | NP_009102.3:p.Ala648= | |
| XM_005272156.1:c.1942G= | XP_005272213.1:p.Ala648= | |
| XM_005272158.1:c.1780G= | XP_005272215.1:p.Ala594= | |
| XM_005272159.1:c.1591G= | XP_005272216.1:p.Ala531= | |
| XM_005272162.1:c.745G= | XP_005272219.1:p.Ala249= | |
| XM_006716932.1:c.1591G= | XP_006716995.1:p.Ala531= | |
| XM_011518140.1:c.1795G= | XP_011516442.1:p.Ala599= | |
| XM_011518141.1:c.1729G= | XP_011516443.1:p.Ala577= | |
| XM_011518142.1:c.1633G= | XP_011516444.1:p.Ala545= | |
| XM_011518143.1:c.1627G= | XP_011516445.1:p.Ala543= | |
| XM_011518145.1:c.1486G= | XP_011516447.1:p.Ala496= | |
| XM_011518147.1:c.814G= | XP_011516449.1:p.Ala272= | |
| XR_929703.1:n.2118G= | ||
| NM_001353193.1:c.1942G= | NP_001340122.1:p.Ala648= | |
| NM_001353194.1:c.1714G= | NP_001340123.1:p.Ala572= | |
| NM_001353195.1:c.1525G= | NP_001340124.1:p.Ala509= | |
| NM_001353196.1:c.1786G= | NP_001340125.1:p.Ala596= | |
| NM_001353197.1:c.1780G= | NP_001340126.1:p.Ala594= | |
| NM_001353198.1:c.1780G= | NP_001340127.1:p.Ala594= | |
| NM_001353199.1:c.1591G= | NP_001340128.1:p.Ala531= | |
| NM_001353200.1:c.1420G= | NP_001340129.1:p.Ala474= | |
| NR_148391.1:n.1926G= | ||
| NR_148392.1:n.2144G= | ||
| NR_148393.1:n.2065G= | ||
| NR_148394.1:n.1819G= | ||
| NR_148395.1:n.2217G= | ||
| NR_148396.1:n.1851G= | ||
| NR_148397.1:n.1976G= | ||
| NR_148398.1:n.1931G= | ||
| NR_148399.1:n.2457G= | ||
| NR_148400.1:n.2056G= | ||
| XM_005272162.3:c.745G= | XP_005272219.1:p.Ala249= | |
| XM_006716932.2:c.1591G= | XP_006716995.1:p.Ala531= | |
| XM_011518140.2:c.1795G= | XP_011516442.1:p.Ala599= | |
| XM_011518141.2:c.1729G= | XP_011516443.1:p.Ala577= | |
| XM_011518142.2:c.1633G= | XP_011516444.1:p.Ala545= | |
| XM_011518143.2:c.1627G= | XP_011516445.1:p.Ala543= | |
| XM_011518145.2:c.1486G= | XP_011516447.1:p.Ala496= | |
| XM_017014205.2:c.745G= | XP_016869694.1:p.Ala249= | |
| XM_024447380.1:c.745G= | XP_024303148.1:p.Ala249= | |
| XM_024447381.1:c.1051G= | XP_024303149.1:p.Ala351= | |
| XM_024447382.1:c.745G= | XP_024303150.1:p.Ala249= | |
| XR_001746160.2:n.2046G= | ||
| XR_001746162.2:n.2251G= | ||
| XR_001746164.1:n.1968G= | ||
| XR_001746166.2:n.2263G= | ||
| NM_001077365.2:c.1876G= MANE Select | NP_001070833.1:p.Ala626= | |
| NM_001077366.2:c.1714G= | NP_001070834.1:p.Ala572= | |
| NM_001136113.2:c.1876G= | NP_001129585.1:p.Ala626= | |
| NM_001136114.2:c.1525G= | NP_001129586.1:p.Ala509= | |
| NM_001353193.2:c.1942G= | NP_001340122.2:p.Ala648= | |
| NM_001353194.2:c.1714G= | NP_001340123.1:p.Ala572= | |
| NM_001353195.2:c.1525G= | NP_001340124.1:p.Ala509= | |
| NM_001353196.2:c.1786G= | NP_001340125.1:p.Ala596= | |
| NM_001353197.2:c.1780G= | NP_001340126.2:p.Ala594= | |
| NM_001353198.2:c.1780G= | NP_001340127.2:p.Ala594= | |
| NM_001353199.2:c.1591G= | NP_001340128.2:p.Ala531= | |
| NM_001353200.2:c.1420G= | NP_001340129.1:p.Ala474= | |
| NM_001374689.1:c.1864G= | NP_001361618.1:p.Ala622= | |
| NM_001374690.1:c.1657G= | NP_001361619.1:p.Ala553= | |
| NM_001374691.1:c.1525G= | NP_001361620.1:p.Ala509= | |
| NM_001374692.1:c.1525G= | NP_001361621.1:p.Ala509= | |
| NM_001374693.1:c.1525G= | NP_001361622.1:p.Ala509= | |
| NM_001374695.1:c.1486G= | NP_001361624.1:p.Ala496= | |
| NM_007171.4:c.1942G= | NP_009102.4:p.Ala648= | |
| NR_148391.2:n.1910G= | ||
| NR_148392.2:n.2128G= | ||
| NR_148393.2:n.2049G= | ||
| NR_148394.2:n.1803G= | ||
| NR_148395.2:n.2201G= | ||
| NR_148396.2:n.1835G= | ||
| NR_148397.2:n.1960G= | ||
| NR_148398.2:n.1915G= | ||
| NR_148399.2:n.2441G= | ||
| NR_148400.2:n.2040G= |