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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518464C>A , CM000671.2:g.131518464C>A | GRCh38 |
| NC_000009.11:g.134393851C>A , CM000671.1:g.134393851C>A | GRCh37 |
| NC_000009.10:g.133383672C>A | NCBI36 |
| NG_008896.1:g.20563C>A | |
| NG_008896.2:g.20563C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1130C>A | ENSP00000343034.7:p.Ser377Tyr | |
| ENST00000404875.7:n.1832C>A | ||
| ENST00000423007.6:c.1349C>A | ENSP00000404119.2:p.Ser450Tyr | |
| ENST00000677295.2:c.*1636C>A | ENSP00000504346.2:n.*1636C>A | |
| ENST00000678264.2:c.*1475C>A | ENSP00000503157.2:n.*1475C>A | |
| ENST00000682070.1:n.1757C>A | ||
| ENST00000682535.1:n.64C>A | ||
| ENST00000682539.1:c.230C>A | ||
| ENST00000682813.1:n.1557C>A | ||
| ENST00000683110.1:n.20C>A | ||
| ENST00000683392.1:n.4039C>A | ||
| ENST00000683712.1:n.1697C>A | ||
| ENST00000683900.1:n.3192C>A | ||
| ENST00000684062.1:n.1958C>A | ||
| ENST00000684579.1:n.3138C>A | ||
| ENST00000684679.1:n.519C>A | ||
| ENST00000341012.12:c.1130C>A | ENSP00000343034.7:p.Ser377Tyr | |
| ENST00000372220.5:c.161C>A | ENSP00000361294.5:p.Ser54Tyr | |
| ENST00000372228.9:c.1358C>A | ENSP00000361302.3:p.Ser453Tyr | |
| ENST00000402686.8:c.1292C>A MANE Select | ENSP00000385797.4:p.Ser431Tyr | |
| ENST00000676640.1:c.1292C>A | ENSP00000503281.1:p.Ser431Tyr | |
| ENST00000676803.1:c.467C>A | ENSP00000503093.1:p.Ser156Tyr | |
| ENST00000676835.1:c.*507C>A | ENSP00000502911.1:n.*507C>A | |
| ENST00000677029.1:c.836C>A | ENSP00000502936.1:p.Ser279Tyr | |
| ENST00000677099.1:c.*1002C>A | ENSP00000504553.1:n.*1002C>A | |
| ENST00000677216.1:c.941C>A | ENSP00000503772.1:p.Ser314Tyr | |
| ENST00000677221.1:n.317C>A | ||
| ENST00000677295.1:c.*669C>A | ENSP00000504346.1:n.*669C>A | |
| ENST00000677444.1:c.1098C>A | ||
| ENST00000677586.1:n.773C>A | ||
| ENST00000677626.1:c.941C>A | ENSP00000503552.1:p.Ser314Tyr | |
| ENST00000677677.1:n.1252C>A | ||
| ENST00000677853.1:c.*300C>A | ENSP00000503488.1:n.*300C>A | |
| ENST00000677983.1:n.381C>A | ||
| ENST00000678202.1:n.312C>A | ||
| ENST00000678264.1:c.*669C>A | ENSP00000503157.1:n.*669C>A | |
| ENST00000678303.1:c.1202C>A | ENSP00000503696.1:p.Ser401Tyr | |
| ENST00000678366.1:c.*1541C>A | ENSP00000504353.1:n.*1541C>A | |
| ENST00000678546.1:c.*1237C>A | ENSP00000503062.1:n.*1237C>A | |
| ENST00000678548.1:c.*1364C>A | ENSP00000503934.1:n.*1364C>A | |
| ENST00000678626.1:n.989C>A | ||
| ENST00000678733.1:c.373C>A | ||
| ENST00000678739.1:c.*1618C>A | ENSP00000503806.1:n.*1618C>A | |
| ENST00000678795.1:n.379C>A | ||
| ENST00000678833.1:c.*739C>A | ENSP00000503893.1:n.*739C>A | |
| ENST00000678942.1:c.472C>A | ENSP00000504690.1:n.472C>A | |
| ENST00000679023.1:c.1130C>A | ENSP00000503718.1:p.Ser377Tyr | |
| ENST00000679076.1:c.911C>A | ||
| ENST00000679111.1:c.1292C>A | ENSP00000504257.1:p.Ser431Tyr | |
| ENST00000679189.1:c.941C>A | ENSP00000503356.1:p.Ser314Tyr | |
| ENST00000341012.11:c.1130C>A | ENSP00000343034.7:p.Ser377Tyr | |
| ENST00000372220.4:c.155C>A | ENSP00000361294.4:p.Ser52Tyr | |
| ENST00000372228.7:c.1358C>A | ENSP00000361302.3:p.Ser453Tyr | |
| ENST00000402686.7:c.1292C>A | ENSP00000385797.3:p.Ser431Tyr | |
| ENST00000404875.6:c.941C>A | ENSP00000384531.2:p.Ser314Tyr | |
| ENST00000423007.5:c.1292C>A | ENSP00000404119.1:p.Ser431Tyr | |
| ENST00000485278.5:n.1847C>A | ||
| NM_001077365.1:c.1292C>A | NP_001070833.1:p.Ser431Tyr | |
| NM_001077366.1:c.1130C>A | NP_001070834.1:p.Ser377Tyr | |
| NM_001136113.1:c.1292C>A | NP_001129585.1:p.Ser431Tyr | |
| NM_001136114.1:c.941C>A | NP_001129586.1:p.Ser314Tyr | |
| NM_007171.3:c.1358C>A | NP_009102.3:p.Ser453Tyr | |
| XM_005272156.1:c.1358C>A | XP_005272213.1:p.Ser453Tyr | |
| XM_005272158.1:c.1196C>A | XP_005272215.1:p.Ser399Tyr | |
| XM_005272159.1:c.1007C>A | XP_005272216.1:p.Ser336Tyr | |
| XM_005272162.1:c.161C>A | XP_005272219.1:p.Ser54Tyr | |
| XM_006716932.1:c.1007C>A | XP_006716995.1:p.Ser336Tyr | |
| XM_011518140.1:c.1211C>A | XP_011516442.1:p.Ser404Tyr | |
| XM_011518141.1:c.1145C>A | XP_011516443.1:p.Ser382Tyr | |
| XM_011518142.1:c.1049C>A | XP_011516444.1:p.Ser350Tyr | |
| XM_011518143.1:c.1043C>A | XP_011516445.1:p.Ser348Tyr | |
| XM_011518144.1:c.1358C>A | XP_011516446.1:p.Ser453Tyr | |
| XM_011518145.1:c.902C>A | XP_011516447.1:p.Ser301Tyr | |
| XM_011518146.1:c.1043C>A | XP_011516448.1:p.Ser348Tyr | |
| XM_011518147.1:c.230C>A | XP_011516449.1:p.Ser77Tyr | |
| XR_929703.1:n.1534C>A | ||
| NM_001353193.1:c.1358C>A | NP_001340122.1:p.Ser453Tyr | |
| NM_001353194.1:c.1130C>A | NP_001340123.1:p.Ser377Tyr | |
| NM_001353195.1:c.941C>A | NP_001340124.1:p.Ser314Tyr | |
| NM_001353196.1:c.1202C>A | NP_001340125.1:p.Ser401Tyr | |
| NM_001353197.1:c.1196C>A | NP_001340126.1:p.Ser399Tyr | |
| NM_001353198.1:c.1196C>A | NP_001340127.1:p.Ser399Tyr | |
| NM_001353199.1:c.1007C>A | NP_001340128.1:p.Ser336Tyr | |
| NM_001353200.1:c.836C>A | NP_001340129.1:p.Ser279Tyr | |
| NR_148391.1:n.1342C>A | ||
| NR_148392.1:n.1560C>A | ||
| NR_148393.1:n.1342C>A | ||
| NR_148394.1:n.1235C>A | ||
| NR_148395.1:n.1494C>A | ||
| NR_148396.1:n.1128C>A | ||
| NR_148397.1:n.1392C>A | ||
| NR_148398.1:n.1347C>A | ||
| NR_148399.1:n.1734C>A | ||
| NR_148400.1:n.1333C>A | ||
| XM_005272162.3:c.161C>A | XP_005272219.1:p.Ser54Tyr | |
| XM_006716932.2:c.1007C>A | XP_006716995.1:p.Ser336Tyr | |
| XM_011518140.2:c.1211C>A | XP_011516442.1:p.Ser404Tyr | |
| XM_011518141.2:c.1145C>A | XP_011516443.1:p.Ser382Tyr | |
| XM_011518142.2:c.1049C>A | XP_011516444.1:p.Ser350Tyr | |
| XM_011518143.2:c.1043C>A | XP_011516445.1:p.Ser348Tyr | |
| XM_011518145.2:c.902C>A | XP_011516447.1:p.Ser301Tyr | |
| XM_017014205.2:c.161C>A | XP_016869694.1:p.Ser54Tyr | |
| XM_024447380.1:c.161C>A | XP_024303148.1:p.Ser54Tyr | |
| XM_024447381.1:c.467C>A | XP_024303149.1:p.Ser156Tyr | |
| XM_024447382.1:c.161C>A | XP_024303150.1:p.Ser54Tyr | |
| XR_001746160.2:n.1462C>A | ||
| XR_001746162.2:n.1528C>A | ||
| XR_001746164.1:n.1245C>A | ||
| XR_001746166.2:n.1679C>A | ||
| NM_001077365.2:c.1292C>A MANE Select | NP_001070833.1:p.Ser431Tyr | |
| NM_001077366.2:c.1130C>A | NP_001070834.1:p.Ser377Tyr | |
| NM_001136113.2:c.1292C>A | NP_001129585.1:p.Ser431Tyr | |
| NM_001136114.2:c.941C>A | NP_001129586.1:p.Ser314Tyr | |
| NM_001353193.2:c.1358C>A | NP_001340122.2:p.Ser453Tyr | |
| NM_001353194.2:c.1130C>A | NP_001340123.1:p.Ser377Tyr | |
| NM_001353195.2:c.941C>A | NP_001340124.1:p.Ser314Tyr | |
| NM_001353196.2:c.1202C>A | NP_001340125.1:p.Ser401Tyr | |
| NM_001353197.2:c.1196C>A | NP_001340126.2:p.Ser399Tyr | |
| NM_001353198.2:c.1196C>A | NP_001340127.2:p.Ser399Tyr | |
| NM_001353199.2:c.1007C>A | NP_001340128.2:p.Ser336Tyr | |
| NM_001353200.2:c.836C>A | NP_001340129.1:p.Ser279Tyr | |
| NM_001374689.1:c.1280C>A | NP_001361618.1:p.Ser427Tyr | |
| NM_001374690.1:c.1292C>A | NP_001361619.1:p.Ser431Tyr | |
| NM_001374691.1:c.941C>A | NP_001361620.1:p.Ser314Tyr | |
| NM_001374692.1:c.941C>A | NP_001361621.1:p.Ser314Tyr | |
| NM_001374693.1:c.941C>A | NP_001361622.1:p.Ser314Tyr | |
| NM_001374695.1:c.902C>A | NP_001361624.1:p.Ser301Tyr | |
| NM_007171.4:c.1358C>A | NP_009102.4:p.Ser453Tyr | |
| NR_148391.2:n.1326C>A | ||
| NR_148392.2:n.1544C>A | ||
| NR_148393.2:n.1326C>A | ||
| NR_148394.2:n.1219C>A | ||
| NR_148395.2:n.1478C>A | ||
| NR_148396.2:n.1112C>A | ||
| NR_148397.2:n.1376C>A | ||
| NR_148398.2:n.1331C>A | ||
| NR_148399.2:n.1718C>A | ||
| NR_148400.2:n.1317C>A |