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
MyVariant Identifiers:
chr9:g.134394235T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518848T>G , CM000671.2:g.131518848T>G | GRCh38 |
| NC_000009.11:g.134394235T>G , CM000671.1:g.134394235T>G | GRCh37 |
| NC_000009.10:g.133384056T>G | NCBI36 |
| NG_008896.1:g.20947T>G | |
| NG_008896.2:g.20947T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1215T>G | ENSP00000343034.7:p.Ala405= | |
| ENST00000404875.7:n.1917T>G | ||
| ENST00000423007.6:c.1434T>G | ENSP00000404119.2:p.Ala478= | |
| ENST00000677295.2:c.*1721T>G | ENSP00000504346.2:n.*1721T>G | |
| ENST00000678264.2:c.*1560T>G | ENSP00000503157.2:n.*1560T>G | |
| ENST00000682070.1:n.1842T>G | ||
| ENST00000682539.1:c.315T>G | ||
| ENST00000682813.1:n.1781T>G | ||
| ENST00000683392.1:n.4124T>G | ||
| ENST00000683712.1:n.1782T>G | ||
| ENST00000683900.1:n.3277T>G | ||
| ENST00000684062.1:n.2043T>G | ||
| ENST00000684579.1:n.3223T>G | ||
| ENST00000684679.1:n.604T>G | ||
| ENST00000341012.12:c.1215T>G | ENSP00000343034.7:p.Ala405= | |
| ENST00000372220.5:c.246T>G | ENSP00000361294.5:p.Ala82= | |
| ENST00000372228.9:c.1443T>G | ENSP00000361302.3:p.Ala481= | |
| ENST00000402686.8:c.1377T>G MANE Select | ENSP00000385797.4:p.Ala459= | |
| ENST00000676640.1:c.1377T>G | ENSP00000503281.1:p.Ala459= | |
| ENST00000676803.1:c.552T>G | ENSP00000503093.1:p.Ala184= | |
| ENST00000676835.1:c.*592T>G | ENSP00000502911.1:n.*592T>G | |
| ENST00000677029.1:c.921T>G | ENSP00000502936.1:p.Ala307= | |
| ENST00000677099.1:c.*1087T>G | ENSP00000504553.1:n.*1087T>G | |
| ENST00000677216.1:c.1026T>G | ENSP00000503772.1:p.Ala342= | |
| ENST00000677221.1:n.402T>G | ||
| ENST00000677295.1:c.*754T>G | ENSP00000504346.1:n.*754T>G | |
| ENST00000677444.1:c.1322T>G | ||
| ENST00000677586.1:n.858T>G | ||
| ENST00000677626.1:c.1026T>G | ENSP00000503552.1:p.Ala342= | |
| ENST00000677677.1:n.1337T>G | ||
| ENST00000677853.1:c.*385T>G | ENSP00000503488.1:n.*385T>G | |
| ENST00000678202.1:n.536T>G | ||
| ENST00000678264.1:c.*754T>G | ENSP00000503157.1:n.*754T>G | |
| ENST00000678303.1:c.1287T>G | ENSP00000503696.1:p.Ala429= | |
| ENST00000678366.1:c.*1626T>G | ENSP00000504353.1:n.*1626T>G | |
| ENST00000678546.1:c.*1322T>G | ENSP00000503062.1:n.*1322T>G | |
| ENST00000678548.1:c.*1449T>G | ENSP00000503934.1:n.*1449T>G | |
| ENST00000678626.1:n.1213T>G | ||
| ENST00000678733.1:c.458T>G | ||
| ENST00000678739.1:c.*1703T>G | ENSP00000503806.1:n.*1703T>G | |
| ENST00000678833.1:c.*824T>G | ENSP00000503893.1:n.*824T>G | |
| ENST00000679023.1:c.1215T>G | ENSP00000503718.1:p.Ala405= | |
| ENST00000679076.1:c.996T>G | ||
| ENST00000679111.1:c.*133T>G | ENSP00000504257.1:n.*133T>G | |
| ENST00000679189.1:c.1026T>G | ENSP00000503356.1:p.Ala342= | |
| ENST00000341012.11:c.1215T>G | ENSP00000343034.7:p.Ala405= | |
| ENST00000372220.4:c.240T>G | ENSP00000361294.4:p.Ala80= | |
| ENST00000372228.7:c.1443T>G | ENSP00000361302.3:p.Ala481= | |
| ENST00000402686.7:c.1377T>G | ENSP00000385797.3:p.Ala459= | |
| ENST00000404875.6:c.1026T>G | ENSP00000384531.2:p.Ala342= | |
| ENST00000423007.5:c.1377T>G | ENSP00000404119.1:p.Ala459= | |
| ENST00000467848.1:n.81T>G | ||
| ENST00000485278.5:n.1932T>G | ||
| NM_001077365.1:c.1377T>G | NP_001070833.1:p.Ala459= | |
| NM_001077366.1:c.1215T>G | NP_001070834.1:p.Ala405= | |
| NM_001136113.1:c.1377T>G | NP_001129585.1:p.Ala459= | |
| NM_001136114.1:c.1026T>G | NP_001129586.1:p.Ala342= | |
| NM_007171.3:c.1443T>G | NP_009102.3:p.Ala481= | |
| XM_005272156.1:c.1443T>G | XP_005272213.1:p.Ala481= | |
| XM_005272158.1:c.1281T>G | XP_005272215.1:p.Ala427= | |
| XM_005272159.1:c.1092T>G | XP_005272216.1:p.Ala364= | |
| XM_005272162.1:c.246T>G | XP_005272219.1:p.Ala82= | |
| XM_006716932.1:c.1092T>G | XP_006716995.1:p.Ala364= | |
| XM_011518140.1:c.1296T>G | XP_011516442.1:p.Ala432= | |
| XM_011518141.1:c.1230T>G | XP_011516443.1:p.Ala410= | |
| XM_011518142.1:c.1134T>G | XP_011516444.1:p.Ala378= | |
| XM_011518143.1:c.1128T>G | XP_011516445.1:p.Ala376= | |
| XM_011518144.1:c.*133T>G | XP_011516446.1:n.*133T>G | |
| XM_011518145.1:c.987T>G | XP_011516447.1:p.Ala329= | |
| XM_011518146.1:c.*133T>G | XP_011516448.1:n.*133T>G | |
| XM_011518147.1:c.315T>G | XP_011516449.1:p.Ala105= | |
| XR_929703.1:n.1619T>G | ||
| NM_001353193.1:c.1443T>G | NP_001340122.1:p.Ala481= | |
| NM_001353194.1:c.1215T>G | NP_001340123.1:p.Ala405= | |
| NM_001353195.1:c.1026T>G | NP_001340124.1:p.Ala342= | |
| NM_001353196.1:c.1287T>G | NP_001340125.1:p.Ala429= | |
| NM_001353197.1:c.1281T>G | NP_001340126.1:p.Ala427= | |
| NM_001353198.1:c.1281T>G | NP_001340127.1:p.Ala427= | |
| NM_001353199.1:c.1092T>G | NP_001340128.1:p.Ala364= | |
| NM_001353200.1:c.921T>G | NP_001340129.1:p.Ala307= | |
| NR_148391.1:n.1427T>G | ||
| NR_148392.1:n.1645T>G | ||
| NR_148393.1:n.1566T>G | ||
| NR_148394.1:n.1320T>G | ||
| NR_148395.1:n.1718T>G | ||
| NR_148396.1:n.1352T>G | ||
| NR_148397.1:n.1477T>G | ||
| NR_148398.1:n.1432T>G | ||
| NR_148399.1:n.1958T>G | ||
| NR_148400.1:n.1557T>G | ||
| XM_005272162.3:c.246T>G | XP_005272219.1:p.Ala82= | |
| XM_006716932.2:c.1092T>G | XP_006716995.1:p.Ala364= | |
| XM_011518140.2:c.1296T>G | XP_011516442.1:p.Ala432= | |
| XM_011518141.2:c.1230T>G | XP_011516443.1:p.Ala410= | |
| XM_011518142.2:c.1134T>G | XP_011516444.1:p.Ala378= | |
| XM_011518143.2:c.1128T>G | XP_011516445.1:p.Ala376= | |
| XM_011518145.2:c.987T>G | XP_011516447.1:p.Ala329= | |
| XM_017014205.2:c.246T>G | XP_016869694.1:p.Ala82= | |
| XM_024447380.1:c.246T>G | XP_024303148.1:p.Ala82= | |
| XM_024447381.1:c.552T>G | XP_024303149.1:p.Ala184= | |
| XM_024447382.1:c.246T>G | XP_024303150.1:p.Ala82= | |
| XR_001746160.2:n.1547T>G | ||
| XR_001746162.2:n.1752T>G | ||
| XR_001746164.1:n.1469T>G | ||
| XR_001746166.2:n.1764T>G | ||
| NM_001077365.2:c.1377T>G MANE Select | NP_001070833.1:p.Ala459= | |
| NM_001077366.2:c.1215T>G | NP_001070834.1:p.Ala405= | |
| NM_001136113.2:c.1377T>G | NP_001129585.1:p.Ala459= | |
| NM_001136114.2:c.1026T>G | NP_001129586.1:p.Ala342= | |
| NM_001353193.2:c.1443T>G | NP_001340122.2:p.Ala481= | |
| NM_001353194.2:c.1215T>G | NP_001340123.1:p.Ala405= | |
| NM_001353195.2:c.1026T>G | NP_001340124.1:p.Ala342= | |
| NM_001353196.2:c.1287T>G | NP_001340125.1:p.Ala429= | |
| NM_001353197.2:c.1281T>G | NP_001340126.2:p.Ala427= | |
| NM_001353198.2:c.1281T>G | NP_001340127.2:p.Ala427= | |
| NM_001353199.2:c.1092T>G | NP_001340128.2:p.Ala364= | |
| NM_001353200.2:c.921T>G | NP_001340129.1:p.Ala307= | |
| NM_001374689.1:c.1365T>G | NP_001361618.1:p.Ala455= | |
| NM_001374690.1:c.1365+311T>G | NP_001361619.1:n.1365+311T>G | |
| NM_001374691.1:c.1026T>G | NP_001361620.1:p.Ala342= | |
| NM_001374692.1:c.1026T>G | NP_001361621.1:p.Ala342= | |
| NM_001374693.1:c.1026T>G | NP_001361622.1:p.Ala342= | |
| NM_001374695.1:c.987T>G | NP_001361624.1:p.Ala329= | |
| NM_007171.4:c.1443T>G | NP_009102.4:p.Ala481= | |
| NR_148391.2:n.1411T>G | ||
| NR_148392.2:n.1629T>G | ||
| NR_148393.2:n.1550T>G | ||
| NR_148394.2:n.1304T>G | ||
| NR_148395.2:n.1702T>G | ||
| NR_148396.2:n.1336T>G | ||
| NR_148397.2:n.1461T>G | ||
| NR_148398.2:n.1416T>G | ||
| NR_148399.2:n.1942T>G | ||
| NR_148400.2:n.1541T>G |