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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518889G>C , CM000671.2:g.131518889G>C | GRCh38 |
| NC_000009.11:g.134394276G>C , CM000671.1:g.134394276G>C | GRCh37 |
| NC_000009.10:g.133384097G>C | NCBI36 |
| NG_008896.1:g.20988G>C | |
| NG_008896.2:g.20988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1256G>C | ENSP00000343034.7:p.Gly419Ala | |
| ENST00000404875.7:n.1958G>C | ||
| ENST00000423007.6:c.1475G>C | ENSP00000404119.2:p.Gly492Ala | |
| ENST00000677295.2:c.*1762G>C | ENSP00000504346.2:n.*1762G>C | |
| ENST00000678264.2:c.*1601G>C | ENSP00000503157.2:n.*1601G>C | |
| ENST00000682070.1:n.1883G>C | ||
| ENST00000682539.1:c.356G>C | ||
| ENST00000682813.1:n.1822G>C | ||
| ENST00000683392.1:n.4165G>C | ||
| ENST00000683712.1:n.1823G>C | ||
| ENST00000683900.1:n.3318G>C | ||
| ENST00000684062.1:n.2084G>C | ||
| ENST00000684579.1:n.3264G>C | ||
| ENST00000684679.1:n.645G>C | ||
| ENST00000341012.12:c.1256G>C | ENSP00000343034.7:p.Gly419Ala | |
| ENST00000372220.5:c.287G>C | ENSP00000361294.5:p.Gly96Ala | |
| ENST00000372228.9:c.1484G>C | ENSP00000361302.3:p.Gly495Ala | |
| ENST00000402686.8:c.1418G>C MANE Select | ENSP00000385797.4:p.Gly473Ala | |
| ENST00000676640.1:c.1418G>C | ENSP00000503281.1:p.Gly473Ala | |
| ENST00000676803.1:c.593G>C | ENSP00000503093.1:p.Gly198Ala | |
| ENST00000676835.1:c.*633G>C | ENSP00000502911.1:n.*633G>C | |
| ENST00000677029.1:c.962G>C | ENSP00000502936.1:p.Gly321Ala | |
| ENST00000677099.1:c.*1128G>C | ENSP00000504553.1:n.*1128G>C | |
| ENST00000677216.1:c.1067G>C | ENSP00000503772.1:p.Gly356Ala | |
| ENST00000677221.1:n.443G>C | ||
| ENST00000677295.1:c.*795G>C | ENSP00000504346.1:n.*795G>C | |
| ENST00000677444.1:c.1363G>C | ||
| ENST00000677586.1:n.899G>C | ||
| ENST00000677626.1:c.1067G>C | ENSP00000503552.1:p.Gly356Ala | |
| ENST00000677677.1:n.1378G>C | ||
| ENST00000677853.1:c.*426G>C | ENSP00000503488.1:n.*426G>C | |
| ENST00000678202.1:n.577G>C | ||
| ENST00000678264.1:c.*795G>C | ENSP00000503157.1:n.*795G>C | |
| ENST00000678303.1:c.1328G>C | ENSP00000503696.1:p.Gly443Ala | |
| ENST00000678366.1:c.*1667G>C | ENSP00000504353.1:n.*1667G>C | |
| ENST00000678546.1:c.*1363G>C | ENSP00000503062.1:n.*1363G>C | |
| ENST00000678548.1:c.*1490G>C | ENSP00000503934.1:n.*1490G>C | |
| ENST00000678626.1:n.1254G>C | ||
| ENST00000678733.1:c.499G>C | ||
| ENST00000678739.1:c.*1744G>C | ENSP00000503806.1:n.*1744G>C | |
| ENST00000678833.1:c.*865G>C | ENSP00000503893.1:n.*865G>C | |
| ENST00000679023.1:c.1256G>C | ENSP00000503718.1:p.Gly419Ala | |
| ENST00000679076.1:c.1037G>C | ||
| ENST00000679111.1:c.*174G>C | ENSP00000504257.1:n.*174G>C | |
| ENST00000679189.1:c.1067G>C | ENSP00000503356.1:p.Gly356Ala | |
| ENST00000341012.11:c.1256G>C | ENSP00000343034.7:p.Gly419Ala | |
| ENST00000372220.4:c.281G>C | ENSP00000361294.4:p.Gly94Ala | |
| ENST00000372228.7:c.1484G>C | ENSP00000361302.3:p.Gly495Ala | |
| ENST00000402686.7:c.1418G>C | ENSP00000385797.3:p.Gly473Ala | |
| ENST00000404875.6:c.1067G>C | ENSP00000384531.2:p.Gly356Ala | |
| ENST00000423007.5:c.1418G>C | ENSP00000404119.1:p.Gly473Ala | |
| ENST00000467848.1:n.122G>C | ||
| ENST00000485278.5:n.1973G>C | ||
| NM_001077365.1:c.1418G>C | NP_001070833.1:p.Gly473Ala | |
| NM_001077366.1:c.1256G>C | NP_001070834.1:p.Gly419Ala | |
| NM_001136113.1:c.1418G>C | NP_001129585.1:p.Gly473Ala | |
| NM_001136114.1:c.1067G>C | NP_001129586.1:p.Gly356Ala | |
| NM_007171.3:c.1484G>C | NP_009102.3:p.Gly495Ala | |
| XM_005272156.1:c.1484G>C | XP_005272213.1:p.Gly495Ala | |
| XM_005272158.1:c.1322G>C | XP_005272215.1:p.Gly441Ala | |
| XM_005272159.1:c.1133G>C | XP_005272216.1:p.Gly378Ala | |
| XM_005272162.1:c.287G>C | XP_005272219.1:p.Gly96Ala | |
| XM_006716932.1:c.1133G>C | XP_006716995.1:p.Gly378Ala | |
| XM_011518140.1:c.1337G>C | XP_011516442.1:p.Gly446Ala | |
| XM_011518141.1:c.1271G>C | XP_011516443.1:p.Gly424Ala | |
| XM_011518142.1:c.1175G>C | XP_011516444.1:p.Gly392Ala | |
| XM_011518143.1:c.1169G>C | XP_011516445.1:p.Gly390Ala | |
| XM_011518144.1:c.*174G>C | XP_011516446.1:n.*174G>C | |
| XM_011518145.1:c.1028G>C | XP_011516447.1:p.Gly343Ala | |
| XM_011518146.1:c.*174G>C | XP_011516448.1:n.*174G>C | |
| XM_011518147.1:c.356G>C | XP_011516449.1:p.Gly119Ala | |
| XR_929703.1:n.1660G>C | ||
| NM_001353193.1:c.1484G>C | NP_001340122.1:p.Gly495Ala | |
| NM_001353194.1:c.1256G>C | NP_001340123.1:p.Gly419Ala | |
| NM_001353195.1:c.1067G>C | NP_001340124.1:p.Gly356Ala | |
| NM_001353196.1:c.1328G>C | NP_001340125.1:p.Gly443Ala | |
| NM_001353197.1:c.1322G>C | NP_001340126.1:p.Gly441Ala | |
| NM_001353198.1:c.1322G>C | NP_001340127.1:p.Gly441Ala | |
| NM_001353199.1:c.1133G>C | NP_001340128.1:p.Gly378Ala | |
| NM_001353200.1:c.962G>C | NP_001340129.1:p.Gly321Ala | |
| NR_148391.1:n.1468G>C | ||
| NR_148392.1:n.1686G>C | ||
| NR_148393.1:n.1607G>C | ||
| NR_148394.1:n.1361G>C | ||
| NR_148395.1:n.1759G>C | ||
| NR_148396.1:n.1393G>C | ||
| NR_148397.1:n.1518G>C | ||
| NR_148398.1:n.1473G>C | ||
| NR_148399.1:n.1999G>C | ||
| NR_148400.1:n.1598G>C | ||
| XM_005272162.3:c.287G>C | XP_005272219.1:p.Gly96Ala | |
| XM_006716932.2:c.1133G>C | XP_006716995.1:p.Gly378Ala | |
| XM_011518140.2:c.1337G>C | XP_011516442.1:p.Gly446Ala | |
| XM_011518141.2:c.1271G>C | XP_011516443.1:p.Gly424Ala | |
| XM_011518142.2:c.1175G>C | XP_011516444.1:p.Gly392Ala | |
| XM_011518143.2:c.1169G>C | XP_011516445.1:p.Gly390Ala | |
| XM_011518145.2:c.1028G>C | XP_011516447.1:p.Gly343Ala | |
| XM_017014205.2:c.287G>C | XP_016869694.1:p.Gly96Ala | |
| XM_024447380.1:c.287G>C | XP_024303148.1:p.Gly96Ala | |
| XM_024447381.1:c.593G>C | XP_024303149.1:p.Gly198Ala | |
| XM_024447382.1:c.287G>C | XP_024303150.1:p.Gly96Ala | |
| XR_001746160.2:n.1588G>C | ||
| XR_001746162.2:n.1793G>C | ||
| XR_001746164.1:n.1510G>C | ||
| XR_001746166.2:n.1805G>C | ||
| NM_001077365.2:c.1418G>C MANE Select | NP_001070833.1:p.Gly473Ala | |
| NM_001077366.2:c.1256G>C | NP_001070834.1:p.Gly419Ala | |
| NM_001136113.2:c.1418G>C | NP_001129585.1:p.Gly473Ala | |
| NM_001136114.2:c.1067G>C | NP_001129586.1:p.Gly356Ala | |
| NM_001353193.2:c.1484G>C | NP_001340122.2:p.Gly495Ala | |
| NM_001353194.2:c.1256G>C | NP_001340123.1:p.Gly419Ala | |
| NM_001353195.2:c.1067G>C | NP_001340124.1:p.Gly356Ala | |
| NM_001353196.2:c.1328G>C | NP_001340125.1:p.Gly443Ala | |
| NM_001353197.2:c.1322G>C | NP_001340126.2:p.Gly441Ala | |
| NM_001353198.2:c.1322G>C | NP_001340127.2:p.Gly441Ala | |
| NM_001353199.2:c.1133G>C | NP_001340128.2:p.Gly378Ala | |
| NM_001353200.2:c.962G>C | NP_001340129.1:p.Gly321Ala | |
| NM_001374689.1:c.1406G>C | NP_001361618.1:p.Gly469Ala | |
| NM_001374690.1:c.1365+352G>C | NP_001361619.1:n.1365+352G>C | |
| NM_001374691.1:c.1067G>C | NP_001361620.1:p.Gly356Ala | |
| NM_001374692.1:c.1067G>C | NP_001361621.1:p.Gly356Ala | |
| NM_001374693.1:c.1067G>C | NP_001361622.1:p.Gly356Ala | |
| NM_001374695.1:c.1028G>C | NP_001361624.1:p.Gly343Ala | |
| NM_007171.4:c.1484G>C | NP_009102.4:p.Gly495Ala | |
| NR_148391.2:n.1452G>C | ||
| NR_148392.2:n.1670G>C | ||
| NR_148393.2:n.1591G>C | ||
| NR_148394.2:n.1345G>C | ||
| NR_148395.2:n.1743G>C | ||
| NR_148396.2:n.1377G>C | ||
| NR_148397.2:n.1502G>C | ||
| NR_148398.2:n.1457G>C | ||
| NR_148399.2:n.1983G>C | ||
| NR_148400.2:n.1582G>C |