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.131518446A= , CM000671.2:g.131518446A= | GRCh38 |
| NC_000009.11:g.134393833A= , CM000671.1:g.134393833A= | GRCh37 |
| NC_000009.10:g.133383654A= | NCBI36 |
| NG_008896.1:g.20545A= | |
| NG_008896.2:g.20545A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1112A= | ENSP00000343034.7:p.Glu371= | |
| ENST00000404875.7:n.1814A= | ||
| ENST00000423007.6:c.1331A= | ENSP00000404119.2:p.Glu444= | |
| ENST00000677295.2:c.*1618A= | ENSP00000504346.2:n.*1618A= | |
| ENST00000678264.2:c.*1457A= | ENSP00000503157.2:n.*1457A= | |
| ENST00000682070.1:n.1739A= | ||
| ENST00000682535.1:n.46A= | ||
| ENST00000682539.1:c.212A= | ||
| ENST00000682813.1:n.1539A= | ||
| ENST00000683110.1:n.2A= | ||
| ENST00000683392.1:n.4021A= | ||
| ENST00000683712.1:n.1679A= | ||
| ENST00000683900.1:n.3174A= | ||
| ENST00000684062.1:n.1940A= | ||
| ENST00000684579.1:n.3120A= | ||
| ENST00000684679.1:n.501A= | ||
| ENST00000341012.12:c.1112A= | ENSP00000343034.7:p.Glu371= | |
| ENST00000372220.5:c.143A= | ENSP00000361294.5:p.Glu48= | |
| ENST00000372228.9:c.1340A= | ENSP00000361302.3:p.Glu447= | |
| ENST00000402686.8:c.1274A= MANE Select | ENSP00000385797.4:p.Glu425= | |
| ENST00000676640.1:c.1274A= | ENSP00000503281.1:p.Glu425= | |
| ENST00000676803.1:c.449A= | ENSP00000503093.1:p.Glu150= | |
| ENST00000676835.1:c.*489A= | ENSP00000502911.1:n.*489A= | |
| ENST00000677029.1:c.818A= | ENSP00000502936.1:p.Glu273= | |
| ENST00000677099.1:c.*984A= | ENSP00000504553.1:n.*984A= | |
| ENST00000677216.1:c.923A= | ENSP00000503772.1:p.Glu308= | |
| ENST00000677221.1:n.299A= | ||
| ENST00000677295.1:c.*651A= | ENSP00000504346.1:n.*651A= | |
| ENST00000677444.1:c.1080A= | ||
| ENST00000677586.1:n.755A= | ||
| ENST00000677626.1:c.923A= | ENSP00000503552.1:p.Glu308= | |
| ENST00000677677.1:n.1234A= | ||
| ENST00000677853.1:c.*282A= | ENSP00000503488.1:n.*282A= | |
| ENST00000677944.1:c.536A= | ||
| ENST00000677983.1:n.363A= | ||
| ENST00000678202.1:n.294A= | ||
| ENST00000678264.1:c.*651A= | ENSP00000503157.1:n.*651A= | |
| ENST00000678303.1:c.1184A= | ENSP00000503696.1:p.Glu395= | |
| ENST00000678366.1:c.*1523A= | ENSP00000504353.1:n.*1523A= | |
| ENST00000678546.1:c.*1219A= | ENSP00000503062.1:n.*1219A= | |
| ENST00000678548.1:c.*1346A= | ENSP00000503934.1:n.*1346A= | |
| ENST00000678626.1:n.971A= | ||
| ENST00000678733.1:c.355A= | ||
| ENST00000678739.1:c.*1600A= | ENSP00000503806.1:n.*1600A= | |
| ENST00000678795.1:n.361A= | ||
| ENST00000678833.1:c.*721A= | ENSP00000503893.1:n.*721A= | |
| ENST00000678942.1:c.454A= | ENSP00000504690.1:n.454A= | |
| ENST00000679023.1:c.1112A= | ENSP00000503718.1:p.Glu371= | |
| ENST00000679076.1:c.893A= | ||
| ENST00000679111.1:c.1274A= | ENSP00000504257.1:p.Glu425= | |
| ENST00000679189.1:c.923A= | ENSP00000503356.1:p.Glu308= | |
| ENST00000341012.11:c.1112A= | ENSP00000343034.7:p.Glu371= | |
| ENST00000372220.4:c.137A= | ENSP00000361294.4:p.Glu46= | |
| ENST00000372228.7:c.1340A= | ENSP00000361302.3:p.Glu447= | |
| ENST00000402686.7:c.1274A= | ENSP00000385797.3:p.Glu425= | |
| ENST00000404875.6:c.923A= | ENSP00000384531.2:p.Glu308= | |
| ENST00000423007.5:c.1274A= | ENSP00000404119.1:p.Glu425= | |
| ENST00000485278.5:n.1829A= | ||
| NM_001077365.1:c.1274A= | NP_001070833.1:p.Glu425= | |
| NM_001077366.1:c.1112A= | NP_001070834.1:p.Glu371= | |
| NM_001136113.1:c.1274A= | NP_001129585.1:p.Glu425= | |
| NM_001136114.1:c.923A= | NP_001129586.1:p.Glu308= | |
| NM_007171.3:c.1340A= | NP_009102.3:p.Glu447= | |
| XM_005272156.1:c.1340A= | XP_005272213.1:p.Glu447= | |
| XM_005272158.1:c.1178A= | XP_005272215.1:p.Glu393= | |
| XM_005272159.1:c.989A= | XP_005272216.1:p.Glu330= | |
| XM_005272162.1:c.143A= | XP_005272219.1:p.Glu48= | |
| XM_006716932.1:c.989A= | XP_006716995.1:p.Glu330= | |
| XM_011518140.1:c.1193A= | XP_011516442.1:p.Glu398= | |
| XM_011518141.1:c.1127A= | XP_011516443.1:p.Glu376= | |
| XM_011518142.1:c.1031A= | XP_011516444.1:p.Glu344= | |
| XM_011518143.1:c.1025A= | XP_011516445.1:p.Glu342= | |
| XM_011518144.1:c.1340A= | XP_011516446.1:p.Glu447= | |
| XM_011518145.1:c.884A= | XP_011516447.1:p.Glu295= | |
| XM_011518146.1:c.1025A= | XP_011516448.1:p.Glu342= | |
| XM_011518147.1:c.212A= | XP_011516449.1:p.Glu71= | |
| XR_929703.1:n.1516A= | ||
| NM_001353193.1:c.1340A= | NP_001340122.1:p.Glu447= | |
| NM_001353194.1:c.1112A= | NP_001340123.1:p.Glu371= | |
| NM_001353195.1:c.923A= | NP_001340124.1:p.Glu308= | |
| NM_001353196.1:c.1184A= | NP_001340125.1:p.Glu395= | |
| NM_001353197.1:c.1178A= | NP_001340126.1:p.Glu393= | |
| NM_001353198.1:c.1178A= | NP_001340127.1:p.Glu393= | |
| NM_001353199.1:c.989A= | NP_001340128.1:p.Glu330= | |
| NM_001353200.1:c.818A= | NP_001340129.1:p.Glu273= | |
| NR_148391.1:n.1324A= | ||
| NR_148392.1:n.1542A= | ||
| NR_148393.1:n.1324A= | ||
| NR_148394.1:n.1217A= | ||
| NR_148395.1:n.1476A= | ||
| NR_148396.1:n.1110A= | ||
| NR_148397.1:n.1374A= | ||
| NR_148398.1:n.1329A= | ||
| NR_148399.1:n.1716A= | ||
| NR_148400.1:n.1315A= | ||
| XM_005272162.3:c.143A= | XP_005272219.1:p.Glu48= | |
| XM_006716932.2:c.989A= | XP_006716995.1:p.Glu330= | |
| XM_011518140.2:c.1193A= | XP_011516442.1:p.Glu398= | |
| XM_011518141.2:c.1127A= | XP_011516443.1:p.Glu376= | |
| XM_011518142.2:c.1031A= | XP_011516444.1:p.Glu344= | |
| XM_011518143.2:c.1025A= | XP_011516445.1:p.Glu342= | |
| XM_011518145.2:c.884A= | XP_011516447.1:p.Glu295= | |
| XM_017014205.2:c.143A= | XP_016869694.1:p.Glu48= | |
| XM_024447380.1:c.143A= | XP_024303148.1:p.Glu48= | |
| XM_024447381.1:c.449A= | XP_024303149.1:p.Glu150= | |
| XM_024447382.1:c.143A= | XP_024303150.1:p.Glu48= | |
| XR_001746160.2:n.1444A= | ||
| XR_001746162.2:n.1510A= | ||
| XR_001746164.1:n.1227A= | ||
| XR_001746166.2:n.1661A= | ||
| NM_001077365.2:c.1274A= MANE Select | NP_001070833.1:p.Glu425= | |
| NM_001077366.2:c.1112A= | NP_001070834.1:p.Glu371= | |
| NM_001136113.2:c.1274A= | NP_001129585.1:p.Glu425= | |
| NM_001136114.2:c.923A= | NP_001129586.1:p.Glu308= | |
| NM_001353193.2:c.1340A= | NP_001340122.2:p.Glu447= | |
| NM_001353194.2:c.1112A= | NP_001340123.1:p.Glu371= | |
| NM_001353195.2:c.923A= | NP_001340124.1:p.Glu308= | |
| NM_001353196.2:c.1184A= | NP_001340125.1:p.Glu395= | |
| NM_001353197.2:c.1178A= | NP_001340126.2:p.Glu393= | |
| NM_001353198.2:c.1178A= | NP_001340127.2:p.Glu393= | |
| NM_001353199.2:c.989A= | NP_001340128.2:p.Glu330= | |
| NM_001353200.2:c.818A= | NP_001340129.1:p.Glu273= | |
| NM_001374689.1:c.1262A= | NP_001361618.1:p.Glu421= | |
| NM_001374690.1:c.1274A= | NP_001361619.1:p.Glu425= | |
| NM_001374691.1:c.923A= | NP_001361620.1:p.Glu308= | |
| NM_001374692.1:c.923A= | NP_001361621.1:p.Glu308= | |
| NM_001374693.1:c.923A= | NP_001361622.1:p.Glu308= | |
| NM_001374695.1:c.884A= | NP_001361624.1:p.Glu295= | |
| NM_007171.4:c.1340A= | NP_009102.4:p.Glu447= | |
| NR_148391.2:n.1308A= | ||
| NR_148392.2:n.1526A= | ||
| NR_148393.2:n.1308A= | ||
| NR_148394.2:n.1201A= | ||
| NR_148395.2:n.1460A= | ||
| NR_148396.2:n.1094A= | ||
| NR_148397.2:n.1358A= | ||
| NR_148398.2:n.1313A= | ||
| NR_148399.2:n.1700A= | ||
| NR_148400.2:n.1299A= |