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.131518945C= , CM000671.2:g.131518945C= | GRCh38 |
| NC_000009.11:g.134394332C= , CM000671.1:g.134394332C= | GRCh37 |
| NC_000009.10:g.133384153C= | NCBI36 |
| NG_008896.1:g.21044C= | |
| NG_008896.2:g.21044C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1312C= | ENSP00000343034.7:p.Arg438= | |
| ENST00000404875.7:n.2014C= | ||
| ENST00000423007.6:c.1531C= | ENSP00000404119.2:p.Arg511= | |
| ENST00000677295.2:c.*1818C= | ENSP00000504346.2:n.*1818C= | |
| ENST00000678264.2:c.*1657C= | ENSP00000503157.2:n.*1657C= | |
| ENST00000682070.1:n.1939C= | ||
| ENST00000682539.1:c.412C= | ||
| ENST00000682813.1:n.1878C= | ||
| ENST00000683392.1:n.4221C= | ||
| ENST00000683712.1:n.1879C= | ||
| ENST00000683900.1:n.3374C= | ||
| ENST00000684062.1:n.2140C= | ||
| ENST00000684579.1:n.3320C= | ||
| ENST00000684679.1:n.701C= | ||
| ENST00000341012.12:c.1312C= | ENSP00000343034.7:p.Arg438= | |
| ENST00000372220.5:c.343C= | ENSP00000361294.5:p.Arg115= | |
| ENST00000372228.9:c.1540C= | ENSP00000361302.3:p.Arg514= | |
| ENST00000402686.8:c.1474C= MANE Select | ENSP00000385797.4:p.Arg492= | |
| ENST00000676640.1:c.1474C= | ENSP00000503281.1:p.Arg492= | |
| ENST00000676803.1:c.649C= | ENSP00000503093.1:p.Arg217= | |
| ENST00000676835.1:c.*689C= | ENSP00000502911.1:n.*689C= | |
| ENST00000677029.1:c.1018C= | ENSP00000502936.1:p.Arg340= | |
| ENST00000677099.1:c.*1184C= | ENSP00000504553.1:n.*1184C= | |
| ENST00000677216.1:c.1123C= | ENSP00000503772.1:p.Arg375= | |
| ENST00000677221.1:n.499C= | ||
| ENST00000677295.1:c.*851C= | ENSP00000504346.1:n.*851C= | |
| ENST00000677444.1:c.1419C= | ||
| ENST00000677586.1:n.955C= | ||
| ENST00000677626.1:c.1123C= | ENSP00000503552.1:p.Arg375= | |
| ENST00000677677.1:n.1434C= | ||
| ENST00000677853.1:c.*482C= | ENSP00000503488.1:n.*482C= | |
| ENST00000678202.1:n.633C= | ||
| ENST00000678264.1:c.*851C= | ENSP00000503157.1:n.*851C= | |
| ENST00000678303.1:c.1384C= | ENSP00000503696.1:p.Arg462= | |
| ENST00000678366.1:c.*1723C= | ENSP00000504353.1:n.*1723C= | |
| ENST00000678546.1:c.*1419C= | ENSP00000503062.1:n.*1419C= | |
| ENST00000678548.1:c.*1546C= | ENSP00000503934.1:n.*1546C= | |
| ENST00000678626.1:n.1310C= | ||
| ENST00000678733.1:c.555C= | ||
| ENST00000678739.1:c.*1800C= | ENSP00000503806.1:n.*1800C= | |
| ENST00000678833.1:c.*921C= | ENSP00000503893.1:n.*921C= | |
| ENST00000679023.1:c.1312C= | ENSP00000503718.1:p.Arg438= | |
| ENST00000679076.1:c.1093C= | ||
| ENST00000679111.1:c.*230C= | ENSP00000504257.1:n.*230C= | |
| ENST00000679189.1:c.1123C= | ENSP00000503356.1:p.Arg375= | |
| ENST00000341012.11:c.1312C= | ENSP00000343034.7:p.Arg438= | |
| ENST00000372220.4:c.337C= | ENSP00000361294.4:p.Arg113= | |
| ENST00000372228.7:c.1540C= | ENSP00000361302.3:p.Arg514= | |
| ENST00000402686.7:c.1474C= | ENSP00000385797.3:p.Arg492= | |
| ENST00000404875.6:c.1123C= | ENSP00000384531.2:p.Arg375= | |
| ENST00000423007.5:c.1474C= | ENSP00000404119.1:p.Arg492= | |
| ENST00000467848.1:n.178C= | ||
| ENST00000485278.5:n.2029C= | ||
| NM_001077365.1:c.1474C= | NP_001070833.1:p.Arg492= | |
| NM_001077366.1:c.1312C= | NP_001070834.1:p.Arg438= | |
| NM_001136113.1:c.1474C= | NP_001129585.1:p.Arg492= | |
| NM_001136114.1:c.1123C= | NP_001129586.1:p.Arg375= | |
| NM_007171.3:c.1540C= | NP_009102.3:p.Arg514= | |
| XM_005272156.1:c.1540C= | XP_005272213.1:p.Arg514= | |
| XM_005272158.1:c.1378C= | XP_005272215.1:p.Arg460= | |
| XM_005272159.1:c.1189C= | XP_005272216.1:p.Arg397= | |
| XM_005272162.1:c.343C= | XP_005272219.1:p.Arg115= | |
| XM_006716932.1:c.1189C= | XP_006716995.1:p.Arg397= | |
| XM_011518140.1:c.1393C= | XP_011516442.1:p.Arg465= | |
| XM_011518141.1:c.1327C= | XP_011516443.1:p.Arg443= | |
| XM_011518142.1:c.1231C= | XP_011516444.1:p.Arg411= | |
| XM_011518143.1:c.1225C= | XP_011516445.1:p.Arg409= | |
| XM_011518145.1:c.1084C= | XP_011516447.1:p.Arg362= | |
| XM_011518147.1:c.412C= | XP_011516449.1:p.Arg138= | |
| XR_929703.1:n.1716C= | ||
| NM_001353193.1:c.1540C= | NP_001340122.1:p.Arg514= | |
| NM_001353194.1:c.1312C= | NP_001340123.1:p.Arg438= | |
| NM_001353195.1:c.1123C= | NP_001340124.1:p.Arg375= | |
| NM_001353196.1:c.1384C= | NP_001340125.1:p.Arg462= | |
| NM_001353197.1:c.1378C= | NP_001340126.1:p.Arg460= | |
| NM_001353198.1:c.1378C= | NP_001340127.1:p.Arg460= | |
| NM_001353199.1:c.1189C= | NP_001340128.1:p.Arg397= | |
| NM_001353200.1:c.1018C= | NP_001340129.1:p.Arg340= | |
| NR_148391.1:n.1524C= | ||
| NR_148392.1:n.1742C= | ||
| NR_148393.1:n.1663C= | ||
| NR_148394.1:n.1417C= | ||
| NR_148395.1:n.1815C= | ||
| NR_148396.1:n.1449C= | ||
| NR_148397.1:n.1574C= | ||
| NR_148398.1:n.1529C= | ||
| NR_148399.1:n.2055C= | ||
| NR_148400.1:n.1654C= | ||
| XM_005272162.3:c.343C= | XP_005272219.1:p.Arg115= | |
| XM_006716932.2:c.1189C= | XP_006716995.1:p.Arg397= | |
| XM_011518140.2:c.1393C= | XP_011516442.1:p.Arg465= | |
| XM_011518141.2:c.1327C= | XP_011516443.1:p.Arg443= | |
| XM_011518142.2:c.1231C= | XP_011516444.1:p.Arg411= | |
| XM_011518143.2:c.1225C= | XP_011516445.1:p.Arg409= | |
| XM_011518145.2:c.1084C= | XP_011516447.1:p.Arg362= | |
| XM_017014205.2:c.343C= | XP_016869694.1:p.Arg115= | |
| XM_024447380.1:c.343C= | XP_024303148.1:p.Arg115= | |
| XM_024447381.1:c.649C= | XP_024303149.1:p.Arg217= | |
| XM_024447382.1:c.343C= | XP_024303150.1:p.Arg115= | |
| XR_001746160.2:n.1644C= | ||
| XR_001746162.2:n.1849C= | ||
| XR_001746164.1:n.1566C= | ||
| XR_001746166.2:n.1861C= | ||
| NM_001077365.2:c.1474C= MANE Select | NP_001070833.1:p.Arg492= | |
| NM_001077366.2:c.1312C= | NP_001070834.1:p.Arg438= | |
| NM_001136113.2:c.1474C= | NP_001129585.1:p.Arg492= | |
| NM_001136114.2:c.1123C= | NP_001129586.1:p.Arg375= | |
| NM_001353193.2:c.1540C= | NP_001340122.2:p.Arg514= | |
| NM_001353194.2:c.1312C= | NP_001340123.1:p.Arg438= | |
| NM_001353195.2:c.1123C= | NP_001340124.1:p.Arg375= | |
| NM_001353196.2:c.1384C= | NP_001340125.1:p.Arg462= | |
| NM_001353197.2:c.1378C= | NP_001340126.2:p.Arg460= | |
| NM_001353198.2:c.1378C= | NP_001340127.2:p.Arg460= | |
| NM_001353199.2:c.1189C= | NP_001340128.2:p.Arg397= | |
| NM_001353200.2:c.1018C= | NP_001340129.1:p.Arg340= | |
| NM_001374689.1:c.1462C= | NP_001361618.1:p.Arg488= | |
| NM_001374690.1:c.1365+408C= | NP_001361619.1:n.1365+408C= | |
| NM_001374691.1:c.1123C= | NP_001361620.1:p.Arg375= | |
| NM_001374692.1:c.1123C= | NP_001361621.1:p.Arg375= | |
| NM_001374693.1:c.1123C= | NP_001361622.1:p.Arg375= | |
| NM_001374695.1:c.1084C= | NP_001361624.1:p.Arg362= | |
| NM_007171.4:c.1540C= | NP_009102.4:p.Arg514= | |
| NR_148391.2:n.1508C= | ||
| NR_148392.2:n.1726C= | ||
| NR_148393.2:n.1647C= | ||
| NR_148394.2:n.1401C= | ||
| NR_148395.2:n.1799C= | ||
| NR_148396.2:n.1433C= | ||
| NR_148397.2:n.1558C= | ||
| NR_148398.2:n.1513C= | ||
| NR_148399.2:n.2039C= | ||
| NR_148400.2:n.1638C= |