Linked Data
ClinVar Variation Id:
285174
dbSNP Id:
rs369651101
ExAC:
9:134390890 C / T
gnomAD v2:
9-134390890-C-T
gnomAD v3:
9-131515503-C-T
gnomAD v4:
9-131515503-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515503C>T , CM000671.2:g.131515503C>T | GRCh38 |
| NC_000009.11:g.134390890C>T , CM000671.1:g.134390890C>T | GRCh37 |
| NC_000009.10:g.133380711C>T | NCBI36 |
| NG_008896.1:g.17602C>T | |
| NG_008896.2:g.17602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1091C>T | ENSP00000343034.7:p.Ala364Val | |
| ENST00000404875.7:n.1793C>T | ||
| ENST00000423007.6:c.1310C>T | ENSP00000404119.2:p.Ala437Val | |
| ENST00000677295.2:c.*1597C>T | ENSP00000504346.2:n.*1597C>T | |
| ENST00000678264.2:c.*1436C>T | ENSP00000503157.2:n.*1436C>T | |
| ENST00000682070.1:n.1718C>T | ||
| ENST00000682539.1:c.78C>T | ||
| ENST00000682813.1:n.1518C>T | ||
| ENST00000683392.1:n.4000C>T | ||
| ENST00000683712.1:n.1658C>T | ||
| ENST00000683900.1:n.3153C>T | ||
| ENST00000684062.1:n.1919C>T | ||
| ENST00000684579.1:n.3099C>T | ||
| ENST00000341012.12:c.1091C>T | ENSP00000343034.7:p.Ala364Val | |
| ENST00000372220.5:c.122C>T | ENSP00000361294.5:p.Ala41Val | |
| ENST00000372228.9:c.1319C>T | ENSP00000361302.3:p.Ala440Val | |
| ENST00000402686.8:c.1253C>T MANE Select | ENSP00000385797.4:p.Ala418Val | |
| ENST00000676640.1:c.1253C>T | ENSP00000503281.1:p.Ala418Val | |
| ENST00000676803.1:c.428C>T | ENSP00000503093.1:p.Ala143Val | |
| ENST00000676835.1:c.*468C>T | ENSP00000502911.1:n.*468C>T | |
| ENST00000677029.1:c.797C>T | ENSP00000502936.1:p.Ala266Val | |
| ENST00000677099.1:c.*963C>T | ENSP00000504553.1:n.*963C>T | |
| ENST00000677216.1:c.902C>T | ENSP00000503772.1:p.Ala301Val | |
| ENST00000677295.1:c.*630C>T | ENSP00000504346.1:n.*630C>T | |
| ENST00000677444.1:c.1059C>T | ||
| ENST00000677586.1:n.734C>T | ||
| ENST00000677626.1:c.902C>T | ENSP00000503552.1:p.Ala301Val | |
| ENST00000677677.1:n.1213C>T | ||
| ENST00000677853.1:c.*261C>T | ENSP00000503488.1:n.*261C>T | |
| ENST00000677944.1:c.515C>T | ||
| ENST00000678264.1:c.*630C>T | ENSP00000503157.1:n.*630C>T | |
| ENST00000678303.1:c.1163C>T | ENSP00000503696.1:p.Ala388Val | |
| ENST00000678366.1:c.*1502C>T | ENSP00000504353.1:n.*1502C>T | |
| ENST00000678546.1:c.*1198C>T | ENSP00000503062.1:n.*1198C>T | |
| ENST00000678548.1:c.*1325C>T | ENSP00000503934.1:n.*1325C>T | |
| ENST00000678626.1:n.950C>T | ||
| ENST00000678733.1:c.334C>T | ||
| ENST00000678739.1:c.*1579C>T | ENSP00000503806.1:n.*1579C>T | |
| ENST00000678795.1:n.340C>T | ||
| ENST00000678833.1:c.*700C>T | ENSP00000503893.1:n.*700C>T | |
| ENST00000678942.1:c.433C>T | ENSP00000504690.1:n.433C>T | |
| ENST00000679023.1:c.1091C>T | ENSP00000503718.1:p.Ala364Val | |
| ENST00000679076.1:c.872C>T | ||
| ENST00000679111.1:c.1253C>T | ENSP00000504257.1:p.Ala418Val | |
| ENST00000679189.1:c.902C>T | ENSP00000503356.1:p.Ala301Val | |
| ENST00000341012.11:c.1091C>T | ENSP00000343034.7:p.Ala364Val | |
| ENST00000372228.7:c.1319C>T | ENSP00000361302.3:p.Ala440Val | |
| ENST00000402686.7:c.1253C>T | ENSP00000385797.3:p.Ala418Val | |
| ENST00000404875.6:c.902C>T | ENSP00000384531.2:p.Ala301Val | |
| ENST00000423007.5:c.1253C>T | ENSP00000404119.1:p.Ala418Val | |
| ENST00000485278.5:n.1808C>T | ||
| NM_001077365.1:c.1253C>T | NP_001070833.1:p.Ala418Val | |
| NM_001077366.1:c.1091C>T | NP_001070834.1:p.Ala364Val | |
| NM_001136113.1:c.1253C>T | NP_001129585.1:p.Ala418Val | |
| NM_001136114.1:c.902C>T | NP_001129586.1:p.Ala301Val | |
| NM_007171.3:c.1319C>T | NP_009102.3:p.Ala440Val | |
| XM_005272156.1:c.1319C>T | XP_005272213.1:p.Ala440Val | |
| XM_005272158.1:c.1157C>T | XP_005272215.1:p.Ala386Val | |
| XM_005272159.1:c.968C>T | XP_005272216.1:p.Ala323Val | |
| XM_005272162.1:c.122C>T | XP_005272219.1:p.Ala41Val | |
| XM_006716932.1:c.968C>T | XP_006716995.1:p.Ala323Val | |
| XM_011518140.1:c.1172C>T | XP_011516442.1:p.Ala391Val | |
| XM_011518141.1:c.1106C>T | XP_011516443.1:p.Ala369Val | |
| XM_011518142.1:c.1010C>T | XP_011516444.1:p.Ala337Val | |
| XM_011518143.1:c.1004C>T | XP_011516445.1:p.Ala335Val | |
| XM_011518144.1:c.1319C>T | XP_011516446.1:p.Ala440Val | |
| XM_011518145.1:c.863C>T | XP_011516447.1:p.Ala288Val | |
| XM_011518146.1:c.1004C>T | XP_011516448.1:p.Ala335Val | |
| XR_929703.1:n.1495C>T | ||
| NM_001353193.1:c.1319C>T | NP_001340122.1:p.Ala440Val | |
| NM_001353194.1:c.1091C>T | NP_001340123.1:p.Ala364Val | |
| NM_001353195.1:c.902C>T | NP_001340124.1:p.Ala301Val | |
| NM_001353196.1:c.1163C>T | NP_001340125.1:p.Ala388Val | |
| NM_001353197.1:c.1157C>T | NP_001340126.1:p.Ala386Val | |
| NM_001353198.1:c.1157C>T | NP_001340127.1:p.Ala386Val | |
| NM_001353199.1:c.968C>T | NP_001340128.1:p.Ala323Val | |
| NM_001353200.1:c.797C>T | NP_001340129.1:p.Ala266Val | |
| NR_148391.1:n.1303C>T | ||
| NR_148392.1:n.1521C>T | ||
| NR_148393.1:n.1303C>T | ||
| NR_148394.1:n.1196C>T | ||
| NR_148395.1:n.1455C>T | ||
| NR_148396.1:n.1089C>T | ||
| NR_148397.1:n.1353C>T | ||
| NR_148398.1:n.1308C>T | ||
| NR_148399.1:n.1695C>T | ||
| NR_148400.1:n.1294C>T | ||
| XM_005272162.3:c.122C>T | XP_005272219.1:p.Ala41Val | |
| XM_006716932.2:c.968C>T | XP_006716995.1:p.Ala323Val | |
| XM_011518140.2:c.1172C>T | XP_011516442.1:p.Ala391Val | |
| XM_011518141.2:c.1106C>T | XP_011516443.1:p.Ala369Val | |
| XM_011518142.2:c.1010C>T | XP_011516444.1:p.Ala337Val | |
| XM_011518143.2:c.1004C>T | XP_011516445.1:p.Ala335Val | |
| XM_011518145.2:c.863C>T | XP_011516447.1:p.Ala288Val | |
| XM_017014205.2:c.122C>T | XP_016869694.1:p.Ala41Val | |
| XM_024447380.1:c.122C>T | XP_024303148.1:p.Ala41Val | |
| XM_024447381.1:c.428C>T | XP_024303149.1:p.Ala143Val | |
| XM_024447382.1:c.122C>T | XP_024303150.1:p.Ala41Val | |
| XR_001746160.2:n.1423C>T | ||
| XR_001746162.2:n.1489C>T | ||
| XR_001746164.1:n.1206C>T | ||
| XR_001746166.2:n.1640C>T | ||
| NM_001077365.2:c.1253C>T MANE Select | NP_001070833.1:p.Ala418Val | |
| NM_001077366.2:c.1091C>T | NP_001070834.1:p.Ala364Val | |
| NM_001136113.2:c.1253C>T | NP_001129585.1:p.Ala418Val | |
| NM_001136114.2:c.902C>T | NP_001129586.1:p.Ala301Val | |
| NM_001353193.2:c.1319C>T | NP_001340122.2:p.Ala440Val | |
| NM_001353194.2:c.1091C>T | NP_001340123.1:p.Ala364Val | |
| NM_001353195.2:c.902C>T | NP_001340124.1:p.Ala301Val | |
| NM_001353196.2:c.1163C>T | NP_001340125.1:p.Ala388Val | |
| NM_001353197.2:c.1157C>T | NP_001340126.2:p.Ala386Val | |
| NM_001353198.2:c.1157C>T | NP_001340127.2:p.Ala386Val | |
| NM_001353199.2:c.968C>T | NP_001340128.2:p.Ala323Val | |
| NM_001353200.2:c.797C>T | NP_001340129.1:p.Ala266Val | |
| NM_001374689.1:c.1241C>T | NP_001361618.1:p.Ala414Val | |
| NM_001374690.1:c.1253C>T | NP_001361619.1:p.Ala418Val | |
| NM_001374691.1:c.902C>T | NP_001361620.1:p.Ala301Val | |
| NM_001374692.1:c.902C>T | NP_001361621.1:p.Ala301Val | |
| NM_001374693.1:c.902C>T | NP_001361622.1:p.Ala301Val | |
| NM_001374695.1:c.863C>T | NP_001361624.1:p.Ala288Val | |
| NM_007171.4:c.1319C>T | NP_009102.4:p.Ala440Val | |
| NR_148391.2:n.1287C>T | ||
| NR_148392.2:n.1505C>T | ||
| NR_148393.2:n.1287C>T | ||
| NR_148394.2:n.1180C>T | ||
| NR_148395.2:n.1439C>T | ||
| NR_148396.2:n.1073C>T | ||
| NR_148397.2:n.1337C>T | ||
| NR_148398.2:n.1292C>T | ||
| NR_148399.2:n.1679C>T | ||
| NR_148400.2:n.1278C>T |