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.131518469A>C , CM000671.2:g.131518469A>C | GRCh38 |
| NC_000009.11:g.134393856A>C , CM000671.1:g.134393856A>C | GRCh37 |
| NC_000009.10:g.133383677A>C | NCBI36 |
| NG_008896.1:g.20568A>C | |
| NG_008896.2:g.20568A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1135A>C | ENSP00000343034.7:p.Thr379Pro | |
| ENST00000404875.7:n.1837A>C | ||
| ENST00000423007.6:c.1354A>C | ENSP00000404119.2:p.Thr452Pro | |
| ENST00000677295.2:c.*1641A>C | ENSP00000504346.2:n.*1641A>C | |
| ENST00000678264.2:c.*1480A>C | ENSP00000503157.2:n.*1480A>C | |
| ENST00000682070.1:n.1762A>C | ||
| ENST00000682535.1:n.69A>C | ||
| ENST00000682539.1:c.235A>C | ||
| ENST00000682813.1:n.1562A>C | ||
| ENST00000683110.1:n.25A>C | ||
| ENST00000683392.1:n.4044A>C | ||
| ENST00000683712.1:n.1702A>C | ||
| ENST00000683900.1:n.3197A>C | ||
| ENST00000684062.1:n.1963A>C | ||
| ENST00000684579.1:n.3143A>C | ||
| ENST00000684679.1:n.524A>C | ||
| ENST00000341012.12:c.1135A>C | ENSP00000343034.7:p.Thr379Pro | |
| ENST00000372220.5:c.166A>C | ENSP00000361294.5:p.Thr56Pro | |
| ENST00000372228.9:c.1363A>C | ENSP00000361302.3:p.Thr455Pro | |
| ENST00000402686.8:c.1297A>C MANE Select | ENSP00000385797.4:p.Thr433Pro | |
| ENST00000676640.1:c.1297A>C | ENSP00000503281.1:p.Thr433Pro | |
| ENST00000676803.1:c.472A>C | ENSP00000503093.1:p.Thr158Pro | |
| ENST00000676835.1:c.*512A>C | ENSP00000502911.1:n.*512A>C | |
| ENST00000677029.1:c.841A>C | ENSP00000502936.1:p.Thr281Pro | |
| ENST00000677099.1:c.*1007A>C | ENSP00000504553.1:n.*1007A>C | |
| ENST00000677216.1:c.946A>C | ENSP00000503772.1:p.Thr316Pro | |
| ENST00000677221.1:n.322A>C | ||
| ENST00000677295.1:c.*674A>C | ENSP00000504346.1:n.*674A>C | |
| ENST00000677444.1:c.1103A>C | ||
| ENST00000677586.1:n.778A>C | ||
| ENST00000677626.1:c.946A>C | ENSP00000503552.1:p.Thr316Pro | |
| ENST00000677677.1:n.1257A>C | ||
| ENST00000677853.1:c.*305A>C | ENSP00000503488.1:n.*305A>C | |
| ENST00000677983.1:n.386A>C | ||
| ENST00000678202.1:n.317A>C | ||
| ENST00000678264.1:c.*674A>C | ENSP00000503157.1:n.*674A>C | |
| ENST00000678303.1:c.1207A>C | ENSP00000503696.1:p.Thr403Pro | |
| ENST00000678366.1:c.*1546A>C | ENSP00000504353.1:n.*1546A>C | |
| ENST00000678546.1:c.*1242A>C | ENSP00000503062.1:n.*1242A>C | |
| ENST00000678548.1:c.*1369A>C | ENSP00000503934.1:n.*1369A>C | |
| ENST00000678626.1:n.994A>C | ||
| ENST00000678733.1:c.378A>C | ||
| ENST00000678739.1:c.*1623A>C | ENSP00000503806.1:n.*1623A>C | |
| ENST00000678795.1:n.384A>C | ||
| ENST00000678833.1:c.*744A>C | ENSP00000503893.1:n.*744A>C | |
| ENST00000678942.1:c.477A>C | ENSP00000504690.1:n.477A>C | |
| ENST00000679023.1:c.1135A>C | ENSP00000503718.1:p.Thr379Pro | |
| ENST00000679076.1:c.916A>C | ||
| ENST00000679111.1:c.1297A>C | ENSP00000504257.1:p.Thr433Pro | |
| ENST00000679189.1:c.946A>C | ENSP00000503356.1:p.Thr316Pro | |
| ENST00000341012.11:c.1135A>C | ENSP00000343034.7:p.Thr379Pro | |
| ENST00000372220.4:c.160A>C | ENSP00000361294.4:p.Thr54Pro | |
| ENST00000372228.7:c.1363A>C | ENSP00000361302.3:p.Thr455Pro | |
| ENST00000402686.7:c.1297A>C | ENSP00000385797.3:p.Thr433Pro | |
| ENST00000404875.6:c.946A>C | ENSP00000384531.2:p.Thr316Pro | |
| ENST00000423007.5:c.1297A>C | ENSP00000404119.1:p.Thr433Pro | |
| ENST00000485278.5:n.1852A>C | ||
| NM_001077365.1:c.1297A>C | NP_001070833.1:p.Thr433Pro | |
| NM_001077366.1:c.1135A>C | NP_001070834.1:p.Thr379Pro | |
| NM_001136113.1:c.1297A>C | NP_001129585.1:p.Thr433Pro | |
| NM_001136114.1:c.946A>C | NP_001129586.1:p.Thr316Pro | |
| NM_007171.3:c.1363A>C | NP_009102.3:p.Thr455Pro | |
| XM_005272156.1:c.1363A>C | XP_005272213.1:p.Thr455Pro | |
| XM_005272158.1:c.1201A>C | XP_005272215.1:p.Thr401Pro | |
| XM_005272159.1:c.1012A>C | XP_005272216.1:p.Thr338Pro | |
| XM_005272162.1:c.166A>C | XP_005272219.1:p.Thr56Pro | |
| XM_006716932.1:c.1012A>C | XP_006716995.1:p.Thr338Pro | |
| XM_011518140.1:c.1216A>C | XP_011516442.1:p.Thr406Pro | |
| XM_011518141.1:c.1150A>C | XP_011516443.1:p.Thr384Pro | |
| XM_011518142.1:c.1054A>C | XP_011516444.1:p.Thr352Pro | |
| XM_011518143.1:c.1048A>C | XP_011516445.1:p.Thr350Pro | |
| XM_011518144.1:c.1363A>C | XP_011516446.1:p.Thr455Pro | |
| XM_011518145.1:c.907A>C | XP_011516447.1:p.Thr303Pro | |
| XM_011518146.1:c.1048A>C | XP_011516448.1:p.Thr350Pro | |
| XM_011518147.1:c.235A>C | XP_011516449.1:p.Thr79Pro | |
| XR_929703.1:n.1539A>C | ||
| NM_001353193.1:c.1363A>C | NP_001340122.1:p.Thr455Pro | |
| NM_001353194.1:c.1135A>C | NP_001340123.1:p.Thr379Pro | |
| NM_001353195.1:c.946A>C | NP_001340124.1:p.Thr316Pro | |
| NM_001353196.1:c.1207A>C | NP_001340125.1:p.Thr403Pro | |
| NM_001353197.1:c.1201A>C | NP_001340126.1:p.Thr401Pro | |
| NM_001353198.1:c.1201A>C | NP_001340127.1:p.Thr401Pro | |
| NM_001353199.1:c.1012A>C | NP_001340128.1:p.Thr338Pro | |
| NM_001353200.1:c.841A>C | NP_001340129.1:p.Thr281Pro | |
| NR_148391.1:n.1347A>C | ||
| NR_148392.1:n.1565A>C | ||
| NR_148393.1:n.1347A>C | ||
| NR_148394.1:n.1240A>C | ||
| NR_148395.1:n.1499A>C | ||
| NR_148396.1:n.1133A>C | ||
| NR_148397.1:n.1397A>C | ||
| NR_148398.1:n.1352A>C | ||
| NR_148399.1:n.1739A>C | ||
| NR_148400.1:n.1338A>C | ||
| XM_005272162.3:c.166A>C | XP_005272219.1:p.Thr56Pro | |
| XM_006716932.2:c.1012A>C | XP_006716995.1:p.Thr338Pro | |
| XM_011518140.2:c.1216A>C | XP_011516442.1:p.Thr406Pro | |
| XM_011518141.2:c.1150A>C | XP_011516443.1:p.Thr384Pro | |
| XM_011518142.2:c.1054A>C | XP_011516444.1:p.Thr352Pro | |
| XM_011518143.2:c.1048A>C | XP_011516445.1:p.Thr350Pro | |
| XM_011518145.2:c.907A>C | XP_011516447.1:p.Thr303Pro | |
| XM_017014205.2:c.166A>C | XP_016869694.1:p.Thr56Pro | |
| XM_024447380.1:c.166A>C | XP_024303148.1:p.Thr56Pro | |
| XM_024447381.1:c.472A>C | XP_024303149.1:p.Thr158Pro | |
| XM_024447382.1:c.166A>C | XP_024303150.1:p.Thr56Pro | |
| XR_001746160.2:n.1467A>C | ||
| XR_001746162.2:n.1533A>C | ||
| XR_001746164.1:n.1250A>C | ||
| XR_001746166.2:n.1684A>C | ||
| NM_001077365.2:c.1297A>C MANE Select | NP_001070833.1:p.Thr433Pro | |
| NM_001077366.2:c.1135A>C | NP_001070834.1:p.Thr379Pro | |
| NM_001136113.2:c.1297A>C | NP_001129585.1:p.Thr433Pro | |
| NM_001136114.2:c.946A>C | NP_001129586.1:p.Thr316Pro | |
| NM_001353193.2:c.1363A>C | NP_001340122.2:p.Thr455Pro | |
| NM_001353194.2:c.1135A>C | NP_001340123.1:p.Thr379Pro | |
| NM_001353195.2:c.946A>C | NP_001340124.1:p.Thr316Pro | |
| NM_001353196.2:c.1207A>C | NP_001340125.1:p.Thr403Pro | |
| NM_001353197.2:c.1201A>C | NP_001340126.2:p.Thr401Pro | |
| NM_001353198.2:c.1201A>C | NP_001340127.2:p.Thr401Pro | |
| NM_001353199.2:c.1012A>C | NP_001340128.2:p.Thr338Pro | |
| NM_001353200.2:c.841A>C | NP_001340129.1:p.Thr281Pro | |
| NM_001374689.1:c.1285A>C | NP_001361618.1:p.Thr429Pro | |
| NM_001374690.1:c.1297A>C | NP_001361619.1:p.Thr433Pro | |
| NM_001374691.1:c.946A>C | NP_001361620.1:p.Thr316Pro | |
| NM_001374692.1:c.946A>C | NP_001361621.1:p.Thr316Pro | |
| NM_001374693.1:c.946A>C | NP_001361622.1:p.Thr316Pro | |
| NM_001374695.1:c.907A>C | NP_001361624.1:p.Thr303Pro | |
| NM_007171.4:c.1363A>C | NP_009102.4:p.Thr455Pro | |
| NR_148391.2:n.1331A>C | ||
| NR_148392.2:n.1549A>C | ||
| NR_148393.2:n.1331A>C | ||
| NR_148394.2:n.1224A>C | ||
| NR_148395.2:n.1483A>C | ||
| NR_148396.2:n.1117A>C | ||
| NR_148397.2:n.1381A>C | ||
| NR_148398.2:n.1336A>C | ||
| NR_148399.2:n.1723A>C | ||
| NR_148400.2:n.1322A>C |