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
ClinVar Variation Id:
972029
dbSNP Id:
rs372354077
ExAC:
9:134394302 G / A
gnomAD v2:
9-134394302-G-A
gnomAD v3:
9-131518915-G-A
gnomAD v4:
9-131518915-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518915G>A , CM000671.2:g.131518915G>A | GRCh38 |
| NC_000009.11:g.134394302G>A , CM000671.1:g.134394302G>A | GRCh37 |
| NC_000009.10:g.133384123G>A | NCBI36 |
| NG_008896.1:g.21014G>A | |
| NG_008896.2:g.21014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1282G>A | ENSP00000343034.7:p.Gly428Arg | |
| ENST00000404875.7:n.1984G>A | ||
| ENST00000423007.6:c.1501G>A | ENSP00000404119.2:p.Gly501Arg | |
| ENST00000677295.2:c.*1788G>A | ENSP00000504346.2:n.*1788G>A | |
| ENST00000678264.2:c.*1627G>A | ENSP00000503157.2:n.*1627G>A | |
| ENST00000682070.1:n.1909G>A | ||
| ENST00000682539.1:c.382G>A | ||
| ENST00000682813.1:n.1848G>A | ||
| ENST00000683392.1:n.4191G>A | ||
| ENST00000683712.1:n.1849G>A | ||
| ENST00000683900.1:n.3344G>A | ||
| ENST00000684062.1:n.2110G>A | ||
| ENST00000684579.1:n.3290G>A | ||
| ENST00000684679.1:n.671G>A | ||
| ENST00000341012.12:c.1282G>A | ENSP00000343034.7:p.Gly428Arg | |
| ENST00000372220.5:c.313G>A | ENSP00000361294.5:p.Gly105Arg | |
| ENST00000372228.9:c.1510G>A | ENSP00000361302.3:p.Gly504Arg | |
| ENST00000402686.8:c.1444G>A MANE Select | ENSP00000385797.4:p.Gly482Arg | |
| ENST00000676640.1:c.1444G>A | ENSP00000503281.1:p.Gly482Arg | |
| ENST00000676803.1:c.619G>A | ENSP00000503093.1:p.Gly207Arg | |
| ENST00000676835.1:c.*659G>A | ENSP00000502911.1:n.*659G>A | |
| ENST00000677029.1:c.988G>A | ENSP00000502936.1:p.Gly330Arg | |
| ENST00000677099.1:c.*1154G>A | ENSP00000504553.1:n.*1154G>A | |
| ENST00000677216.1:c.1093G>A | ENSP00000503772.1:p.Gly365Arg | |
| ENST00000677221.1:n.469G>A | ||
| ENST00000677295.1:c.*821G>A | ENSP00000504346.1:n.*821G>A | |
| ENST00000677444.1:c.1389G>A | ||
| ENST00000677586.1:n.925G>A | ||
| ENST00000677626.1:c.1093G>A | ENSP00000503552.1:p.Gly365Arg | |
| ENST00000677677.1:n.1404G>A | ||
| ENST00000677853.1:c.*452G>A | ENSP00000503488.1:n.*452G>A | |
| ENST00000678202.1:n.603G>A | ||
| ENST00000678264.1:c.*821G>A | ENSP00000503157.1:n.*821G>A | |
| ENST00000678303.1:c.1354G>A | ENSP00000503696.1:p.Gly452Arg | |
| ENST00000678366.1:c.*1693G>A | ENSP00000504353.1:n.*1693G>A | |
| ENST00000678546.1:c.*1389G>A | ENSP00000503062.1:n.*1389G>A | |
| ENST00000678548.1:c.*1516G>A | ENSP00000503934.1:n.*1516G>A | |
| ENST00000678626.1:n.1280G>A | ||
| ENST00000678733.1:c.525G>A | ||
| ENST00000678739.1:c.*1770G>A | ENSP00000503806.1:n.*1770G>A | |
| ENST00000678833.1:c.*891G>A | ENSP00000503893.1:n.*891G>A | |
| ENST00000679023.1:c.1282G>A | ENSP00000503718.1:p.Gly428Arg | |
| ENST00000679076.1:c.1063G>A | ||
| ENST00000679111.1:c.*200G>A | ENSP00000504257.1:n.*200G>A | |
| ENST00000679189.1:c.1093G>A | ENSP00000503356.1:p.Gly365Arg | |
| ENST00000341012.11:c.1282G>A | ENSP00000343034.7:p.Gly428Arg | |
| ENST00000372220.4:c.307G>A | ENSP00000361294.4:p.Gly103Arg | |
| ENST00000372228.7:c.1510G>A | ENSP00000361302.3:p.Gly504Arg | |
| ENST00000402686.7:c.1444G>A | ENSP00000385797.3:p.Gly482Arg | |
| ENST00000404875.6:c.1093G>A | ENSP00000384531.2:p.Gly365Arg | |
| ENST00000423007.5:c.1444G>A | ENSP00000404119.1:p.Gly482Arg | |
| ENST00000467848.1:n.148G>A | ||
| ENST00000485278.5:n.1999G>A | ||
| NM_001077365.1:c.1444G>A | NP_001070833.1:p.Gly482Arg | |
| NM_001077366.1:c.1282G>A | NP_001070834.1:p.Gly428Arg | |
| NM_001136113.1:c.1444G>A | NP_001129585.1:p.Gly482Arg | |
| NM_001136114.1:c.1093G>A | NP_001129586.1:p.Gly365Arg | |
| NM_007171.3:c.1510G>A | NP_009102.3:p.Gly504Arg | |
| XM_005272156.1:c.1510G>A | XP_005272213.1:p.Gly504Arg | |
| XM_005272158.1:c.1348G>A | XP_005272215.1:p.Gly450Arg | |
| XM_005272159.1:c.1159G>A | XP_005272216.1:p.Gly387Arg | |
| XM_005272162.1:c.313G>A | XP_005272219.1:p.Gly105Arg | |
| XM_006716932.1:c.1159G>A | XP_006716995.1:p.Gly387Arg | |
| XM_011518140.1:c.1363G>A | XP_011516442.1:p.Gly455Arg | |
| XM_011518141.1:c.1297G>A | XP_011516443.1:p.Gly433Arg | |
| XM_011518142.1:c.1201G>A | XP_011516444.1:p.Gly401Arg | |
| XM_011518143.1:c.1195G>A | XP_011516445.1:p.Gly399Arg | |
| XM_011518145.1:c.1054G>A | XP_011516447.1:p.Gly352Arg | |
| XM_011518147.1:c.382G>A | XP_011516449.1:p.Gly128Arg | |
| XR_929703.1:n.1686G>A | ||
| NM_001353193.1:c.1510G>A | NP_001340122.1:p.Gly504Arg | |
| NM_001353194.1:c.1282G>A | NP_001340123.1:p.Gly428Arg | |
| NM_001353195.1:c.1093G>A | NP_001340124.1:p.Gly365Arg | |
| NM_001353196.1:c.1354G>A | NP_001340125.1:p.Gly452Arg | |
| NM_001353197.1:c.1348G>A | NP_001340126.1:p.Gly450Arg | |
| NM_001353198.1:c.1348G>A | NP_001340127.1:p.Gly450Arg | |
| NM_001353199.1:c.1159G>A | NP_001340128.1:p.Gly387Arg | |
| NM_001353200.1:c.988G>A | NP_001340129.1:p.Gly330Arg | |
| NR_148391.1:n.1494G>A | ||
| NR_148392.1:n.1712G>A | ||
| NR_148393.1:n.1633G>A | ||
| NR_148394.1:n.1387G>A | ||
| NR_148395.1:n.1785G>A | ||
| NR_148396.1:n.1419G>A | ||
| NR_148397.1:n.1544G>A | ||
| NR_148398.1:n.1499G>A | ||
| NR_148399.1:n.2025G>A | ||
| NR_148400.1:n.1624G>A | ||
| XM_005272162.3:c.313G>A | XP_005272219.1:p.Gly105Arg | |
| XM_006716932.2:c.1159G>A | XP_006716995.1:p.Gly387Arg | |
| XM_011518140.2:c.1363G>A | XP_011516442.1:p.Gly455Arg | |
| XM_011518141.2:c.1297G>A | XP_011516443.1:p.Gly433Arg | |
| XM_011518142.2:c.1201G>A | XP_011516444.1:p.Gly401Arg | |
| XM_011518143.2:c.1195G>A | XP_011516445.1:p.Gly399Arg | |
| XM_011518145.2:c.1054G>A | XP_011516447.1:p.Gly352Arg | |
| XM_017014205.2:c.313G>A | XP_016869694.1:p.Gly105Arg | |
| XM_024447380.1:c.313G>A | XP_024303148.1:p.Gly105Arg | |
| XM_024447381.1:c.619G>A | XP_024303149.1:p.Gly207Arg | |
| XM_024447382.1:c.313G>A | XP_024303150.1:p.Gly105Arg | |
| XR_001746160.2:n.1614G>A | ||
| XR_001746162.2:n.1819G>A | ||
| XR_001746164.1:n.1536G>A | ||
| XR_001746166.2:n.1831G>A | ||
| NM_001077365.2:c.1444G>A MANE Select | NP_001070833.1:p.Gly482Arg | |
| NM_001077366.2:c.1282G>A | NP_001070834.1:p.Gly428Arg | |
| NM_001136113.2:c.1444G>A | NP_001129585.1:p.Gly482Arg | |
| NM_001136114.2:c.1093G>A | NP_001129586.1:p.Gly365Arg | |
| NM_001353193.2:c.1510G>A | NP_001340122.2:p.Gly504Arg | |
| NM_001353194.2:c.1282G>A | NP_001340123.1:p.Gly428Arg | |
| NM_001353195.2:c.1093G>A | NP_001340124.1:p.Gly365Arg | |
| NM_001353196.2:c.1354G>A | NP_001340125.1:p.Gly452Arg | |
| NM_001353197.2:c.1348G>A | NP_001340126.2:p.Gly450Arg | |
| NM_001353198.2:c.1348G>A | NP_001340127.2:p.Gly450Arg | |
| NM_001353199.2:c.1159G>A | NP_001340128.2:p.Gly387Arg | |
| NM_001353200.2:c.988G>A | NP_001340129.1:p.Gly330Arg | |
| NM_001374689.1:c.1432G>A | NP_001361618.1:p.Gly478Arg | |
| NM_001374690.1:c.1365+378G>A | NP_001361619.1:n.1365+378G>A | |
| NM_001374691.1:c.1093G>A | NP_001361620.1:p.Gly365Arg | |
| NM_001374692.1:c.1093G>A | NP_001361621.1:p.Gly365Arg | |
| NM_001374693.1:c.1093G>A | NP_001361622.1:p.Gly365Arg | |
| NM_001374695.1:c.1054G>A | NP_001361624.1:p.Gly352Arg | |
| NM_007171.4:c.1510G>A | NP_009102.4:p.Gly504Arg | |
| NR_148391.2:n.1478G>A | ||
| NR_148392.2:n.1696G>A | ||
| NR_148393.2:n.1617G>A | ||
| NR_148394.2:n.1371G>A | ||
| NR_148395.2:n.1769G>A | ||
| NR_148396.2:n.1403G>A | ||
| NR_148397.2:n.1528G>A | ||
| NR_148398.2:n.1483G>A | ||
| NR_148399.2:n.2009G>A | ||
| NR_148400.2:n.1608G>A |