Linked Data
ClinVar Variation Id:
214308
dbSNP Id:
rs201929226
ExAC:
12:32861094 C / T
gnomAD v2:
12-32861094-C-T
gnomAD v3:
12-32708160-C-T
gnomAD v4:
12-32708160-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32708160C>T , CM000674.2:g.32708160C>T | GRCh38 |
| NC_000012.11:g.32861094C>T , CM000674.1:g.32861094C>T | GRCh37 |
| NC_000012.10:g.32752361C>T | NCBI36 |
| NG_012219.1:g.33958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434676.7:c.305C>T | ENSP00000390090.2:p.Thr102Met | |
| ENST00000546757.6:c.258C>T | ENSP00000448105.2:p.His86= | |
| ENST00000547078.6:c.344C>T | ENSP00000448802.2:p.Thr115Met | |
| ENST00000547719.2:n.1938C>T | ||
| ENST00000547932.6:c.297+747C>T | ENSP00000515272.1:n.297+747C>T | |
| ENST00000548671.6:c.305C>T | ENSP00000515271.1:p.Thr102Met | |
| ENST00000548750.6:c.305C>T | ENSP00000447788.2:p.Thr102Met | |
| ENST00000549926.6:c.-143C>T | ENSP00000515263.1:n.-143C>T | |
| ENST00000550011.6:c.*295C>T | ENSP00000515261.1:n.*295C>T | |
| ENST00000550093.6:n.299C>T | ||
| ENST00000551076.6:c.305C>T | ENSP00000515275.1:p.Thr102Met | |
| ENST00000551476.6:c.254C>T | ENSP00000447845.2:p.Thr85Met | |
| ENST00000551643.6:c.*136C>T | ENSP00000450401.1:n.*136C>T | |
| ENST00000703337.1:c.*102C>T | ENSP00000515262.1:n.*102C>T | |
| ENST00000703338.1:c.-143C>T | ENSP00000515264.1:n.-143C>T | |
| ENST00000703360.1:c.258C>T | ENSP00000515270.1:p.His86= | |
| ENST00000703361.1:c.250+6598C>T | ENSP00000515273.1:n.250+6598C>T | |
| ENST00000703362.1:c.297+747C>T | ENSP00000515274.1:n.297+747C>T | |
| ENST00000703363.1:n.1926C>T | ||
| ENST00000703364.1:n.1910C>T | ||
| ENST00000703365.1:c.305C>T | ENSP00000515276.1:p.Thr102Met | |
| ENST00000703366.1:n.1339C>T | ||
| ENST00000703367.1:c.305C>T | ENSP00000515277.1:p.Thr102Met | |
| ENST00000703368.1:c.344C>T | ENSP00000515278.1:p.Thr115Met | |
| ENST00000703369.1:c.250+6598C>T | ENSP00000515279.1:n.250+6598C>T | |
| ENST00000703370.1:c.-143C>T | ENSP00000515280.1:n.-143C>T | |
| ENST00000703371.1:c.-143C>T | ENSP00000515281.1:n.-143C>T | |
| ENST00000703372.1:c.98C>T | ENSP00000515282.1:p.Thr33Met | |
| ENST00000549701.6:c.305C>T MANE Select | ENSP00000450399.1:p.Thr102Met | |
| ENST00000553257.6:c.344C>T MANE Plus Clinical | ENSP00000449089.1:p.Thr115Met | |
| ENST00000266481.10:c.305C>T | ENSP00000266481.6:p.Thr102Met | |
| ENST00000358214.9:c.344C>T | ENSP00000350948.5:p.Thr115Met | |
| ENST00000381000.8:c.344C>T | ENSP00000370388.4:p.Thr115Met | |
| ENST00000413295.6:c.305C>T | ENSP00000396030.2:p.Thr102Met | |
| ENST00000414834.6:c.131+747C>T | ENSP00000404160.2:n.131+747C>T | |
| ENST00000434676.6:c.305C>T | ENSP00000390090.2:p.Thr102Met | |
| ENST00000452533.6:c.305C>T | ENSP00000415131.2:p.Thr102Met | |
| ENST00000546649.5:c.336+747C>T | ENSP00000448936.1:n.336+747C>T | |
| ENST00000546757.5:c.156C>T | ENSP00000448105.1:p.His52= | |
| ENST00000547312.5:c.305C>T | ENSP00000448610.1:p.Thr102Met | |
| ENST00000547719.1:n.555C>T | ||
| ENST00000547932.5:n.341+747C>T | ||
| ENST00000548671.5:n.368C>T | ||
| ENST00000548750.5:c.305C>T | ENSP00000447788.1:p.Thr102Met | |
| ENST00000549701.5:c.305C>T | ENSP00000450399.1:p.Thr102Met | |
| ENST00000549926.5:n.483C>T | ||
| ENST00000550154.5:c.297+747C>T | ENSP00000447013.1:n.297+747C>T | |
| ENST00000551076.5:n.353C>T | ||
| ENST00000551476.5:c.254C>T | ENSP00000447845.1:p.Thr85Met | |
| ENST00000551643.5:c.*136C>T | ENSP00000450401.1:n.*136C>T | |
| ENST00000553257.5:c.344C>T | ENSP00000449089.1:p.Thr115Met | |
| NM_001278463.1:c.305C>T | NP_001265392.1:p.Thr102Met | |
| NM_001278464.1:c.344C>T | NP_001265393.1:p.Thr115Met | |
| NM_001278465.1:c.344C>T | NP_001265394.1:p.Thr115Met | |
| NM_001278466.1:c.131+747C>T | NP_001265395.1:n.131+747C>T | |
| NM_005690.4:c.305C>T | NP_005681.2:p.Thr102Met | |
| NM_012062.4:c.305C>T | NP_036192.2:p.Thr102Met | |
| NM_012063.3:c.305C>T | NP_036193.2:p.Thr102Met | |
| XM_005253282.3:c.344C>T | XP_005253339.1:p.Thr115Met | |
| XM_005253283.3:c.-143C>T | XP_005253340.1:n.-143C>T | |
| XM_011520543.1:c.344C>T | XP_011518845.1:p.Thr115Met | |
| XM_011520544.1:c.-190C>T | XP_011518846.1:n.-190C>T | |
| NM_001330380.1:c.344C>T | NP_001317309.1:p.Thr115Met | |
| XM_011520543.3:c.344C>T | XP_011518845.1:p.Thr115Met | |
| XM_011520544.2:c.-190C>T | XP_011518846.1:n.-190C>T | |
| XM_017018663.2:c.-190C>T | XP_016874152.1:n.-190C>T | |
| XM_017018664.1:c.-190C>T | XP_016874153.1:n.-190C>T | |
| XM_017018665.1:c.-190C>T | XP_016874154.1:n.-190C>T | |
| NM_012062.5:c.305C>T MANE Select | NP_036192.2:p.Thr102Met | |
| NM_001278463.2:c.305C>T | NP_001265392.1:p.Thr102Met | |
| NM_001278464.2:c.344C>T MANE Plus Clinical | NP_001265393.1:p.Thr115Met | |
| NM_001278465.2:c.344C>T | NP_001265394.1:p.Thr115Met | |
| NM_001278466.2:c.131+747C>T | NP_001265395.1:n.131+747C>T | |
| NM_001330380.2:c.344C>T | NP_001317309.1:p.Thr115Met | |
| NM_005690.5:c.305C>T | NP_005681.2:p.Thr102Met | |
| NM_012063.4:c.305C>T | NP_036193.2:p.Thr102Met |