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.131518879G>C , CM000671.2:g.131518879G>C | GRCh38 |
| NC_000009.11:g.134394266G>C , CM000671.1:g.134394266G>C | GRCh37 |
| NC_000009.10:g.133384087G>C | NCBI36 |
| NG_008896.1:g.20978G>C | |
| NG_008896.2:g.20978G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1246G>C | ENSP00000343034.7:p.Glu416Gln | |
| ENST00000404875.7:n.1948G>C | ||
| ENST00000423007.6:c.1465G>C | ENSP00000404119.2:p.Glu489Gln | |
| ENST00000677295.2:c.*1752G>C | ENSP00000504346.2:n.*1752G>C | |
| ENST00000678264.2:c.*1591G>C | ENSP00000503157.2:n.*1591G>C | |
| ENST00000682070.1:n.1873G>C | ||
| ENST00000682539.1:c.346G>C | ||
| ENST00000682813.1:n.1812G>C | ||
| ENST00000683392.1:n.4155G>C | ||
| ENST00000683712.1:n.1813G>C | ||
| ENST00000683900.1:n.3308G>C | ||
| ENST00000684062.1:n.2074G>C | ||
| ENST00000684579.1:n.3254G>C | ||
| ENST00000684679.1:n.635G>C | ||
| ENST00000341012.12:c.1246G>C | ENSP00000343034.7:p.Glu416Gln | |
| ENST00000372220.5:c.277G>C | ENSP00000361294.5:p.Glu93Gln | |
| ENST00000372228.9:c.1474G>C | ENSP00000361302.3:p.Glu492Gln | |
| ENST00000402686.8:c.1408G>C MANE Select | ENSP00000385797.4:p.Glu470Gln | |
| ENST00000676640.1:c.1408G>C | ENSP00000503281.1:p.Glu470Gln | |
| ENST00000676803.1:c.583G>C | ENSP00000503093.1:p.Glu195Gln | |
| ENST00000676835.1:c.*623G>C | ENSP00000502911.1:n.*623G>C | |
| ENST00000677029.1:c.952G>C | ENSP00000502936.1:p.Glu318Gln | |
| ENST00000677099.1:c.*1118G>C | ENSP00000504553.1:n.*1118G>C | |
| ENST00000677216.1:c.1057G>C | ENSP00000503772.1:p.Glu353Gln | |
| ENST00000677221.1:n.433G>C | ||
| ENST00000677295.1:c.*785G>C | ENSP00000504346.1:n.*785G>C | |
| ENST00000677444.1:c.1353G>C | ||
| ENST00000677586.1:n.889G>C | ||
| ENST00000677626.1:c.1057G>C | ENSP00000503552.1:p.Glu353Gln | |
| ENST00000677677.1:n.1368G>C | ||
| ENST00000677853.1:c.*416G>C | ENSP00000503488.1:n.*416G>C | |
| ENST00000678202.1:n.567G>C | ||
| ENST00000678264.1:c.*785G>C | ENSP00000503157.1:n.*785G>C | |
| ENST00000678303.1:c.1318G>C | ENSP00000503696.1:p.Glu440Gln | |
| ENST00000678366.1:c.*1657G>C | ENSP00000504353.1:n.*1657G>C | |
| ENST00000678546.1:c.*1353G>C | ENSP00000503062.1:n.*1353G>C | |
| ENST00000678548.1:c.*1480G>C | ENSP00000503934.1:n.*1480G>C | |
| ENST00000678626.1:n.1244G>C | ||
| ENST00000678733.1:c.489G>C | ||
| ENST00000678739.1:c.*1734G>C | ENSP00000503806.1:n.*1734G>C | |
| ENST00000678833.1:c.*855G>C | ENSP00000503893.1:n.*855G>C | |
| ENST00000679023.1:c.1246G>C | ENSP00000503718.1:p.Glu416Gln | |
| ENST00000679076.1:c.1027G>C | ||
| ENST00000679111.1:c.*164G>C | ENSP00000504257.1:n.*164G>C | |
| ENST00000679189.1:c.1057G>C | ENSP00000503356.1:p.Glu353Gln | |
| ENST00000341012.11:c.1246G>C | ENSP00000343034.7:p.Glu416Gln | |
| ENST00000372220.4:c.271G>C | ENSP00000361294.4:p.Glu91Gln | |
| ENST00000372228.7:c.1474G>C | ENSP00000361302.3:p.Glu492Gln | |
| ENST00000402686.7:c.1408G>C | ENSP00000385797.3:p.Glu470Gln | |
| ENST00000404875.6:c.1057G>C | ENSP00000384531.2:p.Glu353Gln | |
| ENST00000423007.5:c.1408G>C | ENSP00000404119.1:p.Glu470Gln | |
| ENST00000467848.1:n.112G>C | ||
| ENST00000485278.5:n.1963G>C | ||
| NM_001077365.1:c.1408G>C | NP_001070833.1:p.Glu470Gln | |
| NM_001077366.1:c.1246G>C | NP_001070834.1:p.Glu416Gln | |
| NM_001136113.1:c.1408G>C | NP_001129585.1:p.Glu470Gln | |
| NM_001136114.1:c.1057G>C | NP_001129586.1:p.Glu353Gln | |
| NM_007171.3:c.1474G>C | NP_009102.3:p.Glu492Gln | |
| XM_005272156.1:c.1474G>C | XP_005272213.1:p.Glu492Gln | |
| XM_005272158.1:c.1312G>C | XP_005272215.1:p.Glu438Gln | |
| XM_005272159.1:c.1123G>C | XP_005272216.1:p.Glu375Gln | |
| XM_005272162.1:c.277G>C | XP_005272219.1:p.Glu93Gln | |
| XM_006716932.1:c.1123G>C | XP_006716995.1:p.Glu375Gln | |
| XM_011518140.1:c.1327G>C | XP_011516442.1:p.Glu443Gln | |
| XM_011518141.1:c.1261G>C | XP_011516443.1:p.Glu421Gln | |
| XM_011518142.1:c.1165G>C | XP_011516444.1:p.Glu389Gln | |
| XM_011518143.1:c.1159G>C | XP_011516445.1:p.Glu387Gln | |
| XM_011518144.1:c.*164G>C | XP_011516446.1:n.*164G>C | |
| XM_011518145.1:c.1018G>C | XP_011516447.1:p.Glu340Gln | |
| XM_011518146.1:c.*164G>C | XP_011516448.1:n.*164G>C | |
| XM_011518147.1:c.346G>C | XP_011516449.1:p.Glu116Gln | |
| XR_929703.1:n.1650G>C | ||
| NM_001353193.1:c.1474G>C | NP_001340122.1:p.Glu492Gln | |
| NM_001353194.1:c.1246G>C | NP_001340123.1:p.Glu416Gln | |
| NM_001353195.1:c.1057G>C | NP_001340124.1:p.Glu353Gln | |
| NM_001353196.1:c.1318G>C | NP_001340125.1:p.Glu440Gln | |
| NM_001353197.1:c.1312G>C | NP_001340126.1:p.Glu438Gln | |
| NM_001353198.1:c.1312G>C | NP_001340127.1:p.Glu438Gln | |
| NM_001353199.1:c.1123G>C | NP_001340128.1:p.Glu375Gln | |
| NM_001353200.1:c.952G>C | NP_001340129.1:p.Glu318Gln | |
| NR_148391.1:n.1458G>C | ||
| NR_148392.1:n.1676G>C | ||
| NR_148393.1:n.1597G>C | ||
| NR_148394.1:n.1351G>C | ||
| NR_148395.1:n.1749G>C | ||
| NR_148396.1:n.1383G>C | ||
| NR_148397.1:n.1508G>C | ||
| NR_148398.1:n.1463G>C | ||
| NR_148399.1:n.1989G>C | ||
| NR_148400.1:n.1588G>C | ||
| XM_005272162.3:c.277G>C | XP_005272219.1:p.Glu93Gln | |
| XM_006716932.2:c.1123G>C | XP_006716995.1:p.Glu375Gln | |
| XM_011518140.2:c.1327G>C | XP_011516442.1:p.Glu443Gln | |
| XM_011518141.2:c.1261G>C | XP_011516443.1:p.Glu421Gln | |
| XM_011518142.2:c.1165G>C | XP_011516444.1:p.Glu389Gln | |
| XM_011518143.2:c.1159G>C | XP_011516445.1:p.Glu387Gln | |
| XM_011518145.2:c.1018G>C | XP_011516447.1:p.Glu340Gln | |
| XM_017014205.2:c.277G>C | XP_016869694.1:p.Glu93Gln | |
| XM_024447380.1:c.277G>C | XP_024303148.1:p.Glu93Gln | |
| XM_024447381.1:c.583G>C | XP_024303149.1:p.Glu195Gln | |
| XM_024447382.1:c.277G>C | XP_024303150.1:p.Glu93Gln | |
| XR_001746160.2:n.1578G>C | ||
| XR_001746162.2:n.1783G>C | ||
| XR_001746164.1:n.1500G>C | ||
| XR_001746166.2:n.1795G>C | ||
| NM_001077365.2:c.1408G>C MANE Select | NP_001070833.1:p.Glu470Gln | |
| NM_001077366.2:c.1246G>C | NP_001070834.1:p.Glu416Gln | |
| NM_001136113.2:c.1408G>C | NP_001129585.1:p.Glu470Gln | |
| NM_001136114.2:c.1057G>C | NP_001129586.1:p.Glu353Gln | |
| NM_001353193.2:c.1474G>C | NP_001340122.2:p.Glu492Gln | |
| NM_001353194.2:c.1246G>C | NP_001340123.1:p.Glu416Gln | |
| NM_001353195.2:c.1057G>C | NP_001340124.1:p.Glu353Gln | |
| NM_001353196.2:c.1318G>C | NP_001340125.1:p.Glu440Gln | |
| NM_001353197.2:c.1312G>C | NP_001340126.2:p.Glu438Gln | |
| NM_001353198.2:c.1312G>C | NP_001340127.2:p.Glu438Gln | |
| NM_001353199.2:c.1123G>C | NP_001340128.2:p.Glu375Gln | |
| NM_001353200.2:c.952G>C | NP_001340129.1:p.Glu318Gln | |
| NM_001374689.1:c.1396G>C | NP_001361618.1:p.Glu466Gln | |
| NM_001374690.1:c.1365+342G>C | NP_001361619.1:n.1365+342G>C | |
| NM_001374691.1:c.1057G>C | NP_001361620.1:p.Glu353Gln | |
| NM_001374692.1:c.1057G>C | NP_001361621.1:p.Glu353Gln | |
| NM_001374693.1:c.1057G>C | NP_001361622.1:p.Glu353Gln | |
| NM_001374695.1:c.1018G>C | NP_001361624.1:p.Glu340Gln | |
| NM_007171.4:c.1474G>C | NP_009102.4:p.Glu492Gln | |
| NR_148391.2:n.1442G>C | ||
| NR_148392.2:n.1660G>C | ||
| NR_148393.2:n.1581G>C | ||
| NR_148394.2:n.1335G>C | ||
| NR_148395.2:n.1733G>C | ||
| NR_148396.2:n.1367G>C | ||
| NR_148397.2:n.1492G>C | ||
| NR_148398.2:n.1447G>C | ||
| NR_148399.2:n.1973G>C | ||
| NR_148400.2:n.1572G>C |