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.131518449T>C , CM000671.2:g.131518449T>C | GRCh38 |
| NC_000009.11:g.134393836T>C , CM000671.1:g.134393836T>C | GRCh37 |
| NC_000009.10:g.133383657T>C | NCBI36 |
| NG_008896.1:g.20548T>C | |
| NG_008896.2:g.20548T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1115T>C | ENSP00000343034.7:p.Ile372Thr | |
| ENST00000404875.7:n.1817T>C | ||
| ENST00000423007.6:c.1334T>C | ENSP00000404119.2:p.Ile445Thr | |
| ENST00000677295.2:c.*1621T>C | ENSP00000504346.2:n.*1621T>C | |
| ENST00000678264.2:c.*1460T>C | ENSP00000503157.2:n.*1460T>C | |
| ENST00000682070.1:n.1742T>C | ||
| ENST00000682535.1:n.49T>C | ||
| ENST00000682539.1:c.215T>C | ||
| ENST00000682813.1:n.1542T>C | ||
| ENST00000683110.1:n.5T>C | ||
| ENST00000683392.1:n.4024T>C | ||
| ENST00000683712.1:n.1682T>C | ||
| ENST00000683900.1:n.3177T>C | ||
| ENST00000684062.1:n.1943T>C | ||
| ENST00000684579.1:n.3123T>C | ||
| ENST00000684679.1:n.504T>C | ||
| ENST00000341012.12:c.1115T>C | ENSP00000343034.7:p.Ile372Thr | |
| ENST00000372220.5:c.146T>C | ENSP00000361294.5:p.Ile49Thr | |
| ENST00000372228.9:c.1343T>C | ENSP00000361302.3:p.Ile448Thr | |
| ENST00000402686.8:c.1277T>C MANE Select | ENSP00000385797.4:p.Ile426Thr | |
| ENST00000676640.1:c.1277T>C | ENSP00000503281.1:p.Ile426Thr | |
| ENST00000676803.1:c.452T>C | ENSP00000503093.1:p.Ile151Thr | |
| ENST00000676835.1:c.*492T>C | ENSP00000502911.1:n.*492T>C | |
| ENST00000677029.1:c.821T>C | ENSP00000502936.1:p.Ile274Thr | |
| ENST00000677099.1:c.*987T>C | ENSP00000504553.1:n.*987T>C | |
| ENST00000677216.1:c.926T>C | ENSP00000503772.1:p.Ile309Thr | |
| ENST00000677221.1:n.302T>C | ||
| ENST00000677295.1:c.*654T>C | ENSP00000504346.1:n.*654T>C | |
| ENST00000677444.1:c.1083T>C | ||
| ENST00000677586.1:n.758T>C | ||
| ENST00000677626.1:c.926T>C | ENSP00000503552.1:p.Ile309Thr | |
| ENST00000677677.1:n.1237T>C | ||
| ENST00000677853.1:c.*285T>C | ENSP00000503488.1:n.*285T>C | |
| ENST00000677944.1:c.539T>C | ||
| ENST00000677983.1:n.366T>C | ||
| ENST00000678202.1:n.297T>C | ||
| ENST00000678264.1:c.*654T>C | ENSP00000503157.1:n.*654T>C | |
| ENST00000678303.1:c.1187T>C | ENSP00000503696.1:p.Ile396Thr | |
| ENST00000678366.1:c.*1526T>C | ENSP00000504353.1:n.*1526T>C | |
| ENST00000678546.1:c.*1222T>C | ENSP00000503062.1:n.*1222T>C | |
| ENST00000678548.1:c.*1349T>C | ENSP00000503934.1:n.*1349T>C | |
| ENST00000678626.1:n.974T>C | ||
| ENST00000678733.1:c.358T>C | ||
| ENST00000678739.1:c.*1603T>C | ENSP00000503806.1:n.*1603T>C | |
| ENST00000678795.1:n.364T>C | ||
| ENST00000678833.1:c.*724T>C | ENSP00000503893.1:n.*724T>C | |
| ENST00000678942.1:c.457T>C | ENSP00000504690.1:n.457T>C | |
| ENST00000679023.1:c.1115T>C | ENSP00000503718.1:p.Ile372Thr | |
| ENST00000679076.1:c.896T>C | ||
| ENST00000679111.1:c.1277T>C | ENSP00000504257.1:p.Ile426Thr | |
| ENST00000679189.1:c.926T>C | ENSP00000503356.1:p.Ile309Thr | |
| ENST00000341012.11:c.1115T>C | ENSP00000343034.7:p.Ile372Thr | |
| ENST00000372220.4:c.140T>C | ENSP00000361294.4:p.Ile47Thr | |
| ENST00000372228.7:c.1343T>C | ENSP00000361302.3:p.Ile448Thr | |
| ENST00000402686.7:c.1277T>C | ENSP00000385797.3:p.Ile426Thr | |
| ENST00000404875.6:c.926T>C | ENSP00000384531.2:p.Ile309Thr | |
| ENST00000423007.5:c.1277T>C | ENSP00000404119.1:p.Ile426Thr | |
| ENST00000485278.5:n.1832T>C | ||
| NM_001077365.1:c.1277T>C | NP_001070833.1:p.Ile426Thr | |
| NM_001077366.1:c.1115T>C | NP_001070834.1:p.Ile372Thr | |
| NM_001136113.1:c.1277T>C | NP_001129585.1:p.Ile426Thr | |
| NM_001136114.1:c.926T>C | NP_001129586.1:p.Ile309Thr | |
| NM_007171.3:c.1343T>C | NP_009102.3:p.Ile448Thr | |
| XM_005272156.1:c.1343T>C | XP_005272213.1:p.Ile448Thr | |
| XM_005272158.1:c.1181T>C | XP_005272215.1:p.Ile394Thr | |
| XM_005272159.1:c.992T>C | XP_005272216.1:p.Ile331Thr | |
| XM_005272162.1:c.146T>C | XP_005272219.1:p.Ile49Thr | |
| XM_006716932.1:c.992T>C | XP_006716995.1:p.Ile331Thr | |
| XM_011518140.1:c.1196T>C | XP_011516442.1:p.Ile399Thr | |
| XM_011518141.1:c.1130T>C | XP_011516443.1:p.Ile377Thr | |
| XM_011518142.1:c.1034T>C | XP_011516444.1:p.Ile345Thr | |
| XM_011518143.1:c.1028T>C | XP_011516445.1:p.Ile343Thr | |
| XM_011518144.1:c.1343T>C | XP_011516446.1:p.Ile448Thr | |
| XM_011518145.1:c.887T>C | XP_011516447.1:p.Ile296Thr | |
| XM_011518146.1:c.1028T>C | XP_011516448.1:p.Ile343Thr | |
| XM_011518147.1:c.215T>C | XP_011516449.1:p.Ile72Thr | |
| XR_929703.1:n.1519T>C | ||
| NM_001353193.1:c.1343T>C | NP_001340122.1:p.Ile448Thr | |
| NM_001353194.1:c.1115T>C | NP_001340123.1:p.Ile372Thr | |
| NM_001353195.1:c.926T>C | NP_001340124.1:p.Ile309Thr | |
| NM_001353196.1:c.1187T>C | NP_001340125.1:p.Ile396Thr | |
| NM_001353197.1:c.1181T>C | NP_001340126.1:p.Ile394Thr | |
| NM_001353198.1:c.1181T>C | NP_001340127.1:p.Ile394Thr | |
| NM_001353199.1:c.992T>C | NP_001340128.1:p.Ile331Thr | |
| NM_001353200.1:c.821T>C | NP_001340129.1:p.Ile274Thr | |
| NR_148391.1:n.1327T>C | ||
| NR_148392.1:n.1545T>C | ||
| NR_148393.1:n.1327T>C | ||
| NR_148394.1:n.1220T>C | ||
| NR_148395.1:n.1479T>C | ||
| NR_148396.1:n.1113T>C | ||
| NR_148397.1:n.1377T>C | ||
| NR_148398.1:n.1332T>C | ||
| NR_148399.1:n.1719T>C | ||
| NR_148400.1:n.1318T>C | ||
| XM_005272162.3:c.146T>C | XP_005272219.1:p.Ile49Thr | |
| XM_006716932.2:c.992T>C | XP_006716995.1:p.Ile331Thr | |
| XM_011518140.2:c.1196T>C | XP_011516442.1:p.Ile399Thr | |
| XM_011518141.2:c.1130T>C | XP_011516443.1:p.Ile377Thr | |
| XM_011518142.2:c.1034T>C | XP_011516444.1:p.Ile345Thr | |
| XM_011518143.2:c.1028T>C | XP_011516445.1:p.Ile343Thr | |
| XM_011518145.2:c.887T>C | XP_011516447.1:p.Ile296Thr | |
| XM_017014205.2:c.146T>C | XP_016869694.1:p.Ile49Thr | |
| XM_024447380.1:c.146T>C | XP_024303148.1:p.Ile49Thr | |
| XM_024447381.1:c.452T>C | XP_024303149.1:p.Ile151Thr | |
| XM_024447382.1:c.146T>C | XP_024303150.1:p.Ile49Thr | |
| XR_001746160.2:n.1447T>C | ||
| XR_001746162.2:n.1513T>C | ||
| XR_001746164.1:n.1230T>C | ||
| XR_001746166.2:n.1664T>C | ||
| NM_001077365.2:c.1277T>C MANE Select | NP_001070833.1:p.Ile426Thr | |
| NM_001077366.2:c.1115T>C | NP_001070834.1:p.Ile372Thr | |
| NM_001136113.2:c.1277T>C | NP_001129585.1:p.Ile426Thr | |
| NM_001136114.2:c.926T>C | NP_001129586.1:p.Ile309Thr | |
| NM_001353193.2:c.1343T>C | NP_001340122.2:p.Ile448Thr | |
| NM_001353194.2:c.1115T>C | NP_001340123.1:p.Ile372Thr | |
| NM_001353195.2:c.926T>C | NP_001340124.1:p.Ile309Thr | |
| NM_001353196.2:c.1187T>C | NP_001340125.1:p.Ile396Thr | |
| NM_001353197.2:c.1181T>C | NP_001340126.2:p.Ile394Thr | |
| NM_001353198.2:c.1181T>C | NP_001340127.2:p.Ile394Thr | |
| NM_001353199.2:c.992T>C | NP_001340128.2:p.Ile331Thr | |
| NM_001353200.2:c.821T>C | NP_001340129.1:p.Ile274Thr | |
| NM_001374689.1:c.1265T>C | NP_001361618.1:p.Ile422Thr | |
| NM_001374690.1:c.1277T>C | NP_001361619.1:p.Ile426Thr | |
| NM_001374691.1:c.926T>C | NP_001361620.1:p.Ile309Thr | |
| NM_001374692.1:c.926T>C | NP_001361621.1:p.Ile309Thr | |
| NM_001374693.1:c.926T>C | NP_001361622.1:p.Ile309Thr | |
| NM_001374695.1:c.887T>C | NP_001361624.1:p.Ile296Thr | |
| NM_007171.4:c.1343T>C | NP_009102.4:p.Ile448Thr | |
| NR_148391.2:n.1311T>C | ||
| NR_148392.2:n.1529T>C | ||
| NR_148393.2:n.1311T>C | ||
| NR_148394.2:n.1204T>C | ||
| NR_148395.2:n.1463T>C | ||
| NR_148396.2:n.1097T>C | ||
| NR_148397.2:n.1361T>C | ||
| NR_148398.2:n.1316T>C | ||
| NR_148399.2:n.1703T>C | ||
| NR_148400.2:n.1302T>C |