Linked Data
ClinVar Variation Id:
39435
ClinVar RCV Id:
RCV000032630
dbSNP Id:
rs397515400
ExAC:
9:134388718 C / T
gnomAD v2:
9-134388718-C-T
gnomAD v4:
9-131513331-C-T
PubMed:
PMID:22549409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513331C>T , CM000671.2:g.131513331C>T | GRCh38 |
| NC_000009.11:g.134388718C>T , CM000671.1:g.134388718C>T | GRCh37 |
| NC_000009.10:g.133378539C>T | NCBI36 |
| NG_008896.1:g.15430C>T | |
| NG_008896.2:g.15430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1013C>T | ENSP00000343034.7:p.Thr338Met | |
| ENST00000404875.7:n.1715C>T | ||
| ENST00000423007.6:c.1232C>T | ENSP00000404119.2:p.Thr411Met | |
| ENST00000677295.2:c.*1519C>T | ENSP00000504346.2:n.*1519C>T | |
| ENST00000678264.2:c.*1358C>T | ENSP00000503157.2:n.*1358C>T | |
| ENST00000682070.1:n.1640C>T | ||
| ENST00000682813.1:n.1440C>T | ||
| ENST00000683392.1:n.3922C>T | ||
| ENST00000683712.1:n.1580C>T | ||
| ENST00000683900.1:n.3075C>T | ||
| ENST00000684062.1:n.1841C>T | ||
| ENST00000684579.1:n.3021C>T | ||
| ENST00000341012.12:c.1013C>T | ENSP00000343034.7:p.Thr338Met | |
| ENST00000372220.5:c.44C>T | ENSP00000361294.5:p.Thr15Met | |
| ENST00000372228.9:c.1241C>T | ENSP00000361302.3:p.Thr414Met | |
| ENST00000402686.8:c.1175C>T MANE Select | ENSP00000385797.4:p.Thr392Met | |
| ENST00000676640.1:c.1175C>T | ENSP00000503281.1:p.Thr392Met | |
| ENST00000676803.1:c.350C>T | ENSP00000503093.1:p.Thr117Met | |
| ENST00000676835.1:c.*390C>T | ENSP00000502911.1:n.*390C>T | |
| ENST00000677029.1:c.719C>T | ENSP00000502936.1:p.Thr240Met | |
| ENST00000677099.1:c.*885C>T | ENSP00000504553.1:n.*885C>T | |
| ENST00000677216.1:c.824C>T | ENSP00000503772.1:p.Thr275Met | |
| ENST00000677293.1:c.350C>T | ENSP00000504278.1:p.Thr117Met | |
| ENST00000677295.1:c.*552C>T | ENSP00000504346.1:n.*552C>T | |
| ENST00000677444.1:c.981C>T | ||
| ENST00000677586.1:n.656C>T | ||
| ENST00000677626.1:c.824+1864C>T | ENSP00000503552.1:n.824+1864C>T | |
| ENST00000677677.1:n.1135C>T | ||
| ENST00000677853.1:c.*183C>T | ENSP00000503488.1:n.*183C>T | |
| ENST00000677944.1:c.437C>T | ||
| ENST00000678264.1:c.*552C>T | ENSP00000503157.1:n.*552C>T | |
| ENST00000678303.1:c.1085C>T | ENSP00000503696.1:p.Thr362Met | |
| ENST00000678366.1:c.*1424C>T | ENSP00000504353.1:n.*1424C>T | |
| ENST00000678546.1:c.*1120C>T | ENSP00000503062.1:n.*1120C>T | |
| ENST00000678548.1:c.*1247C>T | ENSP00000503934.1:n.*1247C>T | |
| ENST00000678626.1:n.872C>T | ||
| ENST00000678733.1:c.256+1195C>T | ||
| ENST00000678739.1:c.*1501C>T | ENSP00000503806.1:n.*1501C>T | |
| ENST00000678795.1:n.262C>T | ||
| ENST00000678833.1:c.*622C>T | ENSP00000503893.1:n.*622C>T | |
| ENST00000678942.1:c.355C>T | ENSP00000504690.1:n.355C>T | |
| ENST00000679023.1:c.1013C>T | ENSP00000503718.1:p.Thr338Met | |
| ENST00000679076.1:c.794C>T | ||
| ENST00000679111.1:c.1175C>T | ENSP00000504257.1:p.Thr392Met | |
| ENST00000679189.1:c.824C>T | ENSP00000503356.1:p.Thr275Met | |
| ENST00000341012.11:c.1013C>T | ENSP00000343034.7:p.Thr338Met | |
| ENST00000372228.7:c.1241C>T | ENSP00000361302.3:p.Thr414Met | |
| ENST00000402686.7:c.1175C>T | ENSP00000385797.3:p.Thr392Met | |
| ENST00000404875.6:c.824C>T | ENSP00000384531.2:p.Thr275Met | |
| ENST00000423007.5:c.1175C>T | ENSP00000404119.1:p.Thr392Met | |
| ENST00000441334.5:c.890C>T | ||
| ENST00000462375.5:n.1001C>T | ||
| ENST00000485278.5:n.1730C>T | ||
| NM_001077365.1:c.1175C>T | NP_001070833.1:p.Thr392Met | |
| NM_001077366.1:c.1013C>T | NP_001070834.1:p.Thr338Met | |
| NM_001136113.1:c.1175C>T | NP_001129585.1:p.Thr392Met | |
| NM_001136114.1:c.824C>T | NP_001129586.1:p.Thr275Met | |
| NM_007171.3:c.1241C>T | NP_009102.3:p.Thr414Met | |
| XM_005272156.1:c.1241C>T | XP_005272213.1:p.Thr414Met | |
| XM_005272158.1:c.1079C>T | XP_005272215.1:p.Thr360Met | |
| XM_005272159.1:c.890C>T | XP_005272216.1:p.Thr297Met | |
| XM_005272162.1:c.44C>T | XP_005272219.1:p.Thr15Met | |
| XM_006716932.1:c.890C>T | XP_006716995.1:p.Thr297Met | |
| XM_011518140.1:c.1094C>T | XP_011516442.1:p.Thr365Met | |
| XM_011518141.1:c.1028C>T | XP_011516443.1:p.Thr343Met | |
| XM_011518142.1:c.932C>T | XP_011516444.1:p.Thr311Met | |
| XM_011518143.1:c.926C>T | XP_011516445.1:p.Thr309Met | |
| XM_011518144.1:c.1241C>T | XP_011516446.1:p.Thr414Met | |
| XM_011518145.1:c.785C>T | XP_011516447.1:p.Thr262Met | |
| XM_011518146.1:c.926C>T | XP_011516448.1:p.Thr309Met | |
| XR_929703.1:n.1417C>T | ||
| NM_001353193.1:c.1241C>T | NP_001340122.1:p.Thr414Met | |
| NM_001353194.1:c.1013C>T | NP_001340123.1:p.Thr338Met | |
| NM_001353195.1:c.824C>T | NP_001340124.1:p.Thr275Met | |
| NM_001353196.1:c.1085C>T | NP_001340125.1:p.Thr362Met | |
| NM_001353197.1:c.1079C>T | NP_001340126.1:p.Thr360Met | |
| NM_001353198.1:c.1079C>T | NP_001340127.1:p.Thr360Met | |
| NM_001353199.1:c.890C>T | NP_001340128.1:p.Thr297Met | |
| NM_001353200.1:c.719C>T | NP_001340129.1:p.Thr240Met | |
| NR_148391.1:n.1225C>T | ||
| NR_148392.1:n.1443C>T | ||
| NR_148393.1:n.1225C>T | ||
| NR_148394.1:n.1118C>T | ||
| NR_148395.1:n.1377C>T | ||
| NR_148396.1:n.1011C>T | ||
| NR_148397.1:n.1275C>T | ||
| NR_148398.1:n.1230C>T | ||
| NR_148399.1:n.1617C>T | ||
| NR_148400.1:n.1216C>T | ||
| XM_005272162.3:c.44C>T | XP_005272219.1:p.Thr15Met | |
| XM_006716932.2:c.890C>T | XP_006716995.1:p.Thr297Met | |
| XM_011518140.2:c.1094C>T | XP_011516442.1:p.Thr365Met | |
| XM_011518141.2:c.1028C>T | XP_011516443.1:p.Thr343Met | |
| XM_011518142.2:c.932C>T | XP_011516444.1:p.Thr311Met | |
| XM_011518143.2:c.926C>T | XP_011516445.1:p.Thr309Met | |
| XM_011518145.2:c.785C>T | XP_011516447.1:p.Thr262Met | |
| XM_017014205.2:c.44C>T | XP_016869694.1:p.Thr15Met | |
| XM_024447380.1:c.44C>T | XP_024303148.1:p.Thr15Met | |
| XM_024447381.1:c.350C>T | XP_024303149.1:p.Thr117Met | |
| XM_024447382.1:c.44C>T | XP_024303150.1:p.Thr15Met | |
| XR_001746160.2:n.1345C>T | ||
| XR_001746162.2:n.1411C>T | ||
| XR_001746164.1:n.1128C>T | ||
| XR_001746166.2:n.1562C>T | ||
| NM_001077365.2:c.1175C>T MANE Select | NP_001070833.1:p.Thr392Met | |
| NM_001077366.2:c.1013C>T | NP_001070834.1:p.Thr338Met | |
| NM_001136113.2:c.1175C>T | NP_001129585.1:p.Thr392Met | |
| NM_001136114.2:c.824C>T | NP_001129586.1:p.Thr275Met | |
| NM_001353193.2:c.1241C>T | NP_001340122.2:p.Thr414Met | |
| NM_001353194.2:c.1013C>T | NP_001340123.1:p.Thr338Met | |
| NM_001353195.2:c.824C>T | NP_001340124.1:p.Thr275Met | |
| NM_001353196.2:c.1085C>T | NP_001340125.1:p.Thr362Met | |
| NM_001353197.2:c.1079C>T | NP_001340126.2:p.Thr360Met | |
| NM_001353198.2:c.1079C>T | NP_001340127.2:p.Thr360Met | |
| NM_001353199.2:c.890C>T | NP_001340128.2:p.Thr297Met | |
| NM_001353200.2:c.719C>T | NP_001340129.1:p.Thr240Met | |
| NM_001374689.1:c.1163C>T | NP_001361618.1:p.Thr388Met | |
| NM_001374690.1:c.1175C>T | NP_001361619.1:p.Thr392Met | |
| NM_001374691.1:c.824C>T | NP_001361620.1:p.Thr275Met | |
| NM_001374692.1:c.824C>T | NP_001361621.1:p.Thr275Met | |
| NM_001374693.1:c.824+1864C>T | NP_001361622.1:n.824+1864C>T | |
| NM_001374695.1:c.785C>T | NP_001361624.1:p.Thr262Met | |
| NM_007171.4:c.1241C>T | NP_009102.4:p.Thr414Met | |
| NR_148391.2:n.1209C>T | ||
| NR_148392.2:n.1427C>T | ||
| NR_148393.2:n.1209C>T | ||
| NR_148394.2:n.1102C>T | ||
| NR_148395.2:n.1361C>T | ||
| NR_148396.2:n.995C>T | ||
| NR_148397.2:n.1259C>T | ||
| NR_148398.2:n.1214C>T | ||
| NR_148399.2:n.1601C>T | ||
| NR_148400.2:n.1200C>T |