Linked Data
dbSNP Id:
rs1282802400
gnomAD v4:
9-133443430-G-A
MyVariant Identifiers:
chr9:g.133443430G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133443430G>A , CM000671.2:g.133443430G>A | GRCh38 |
| NC_000009.10:g.135298372G>A | NCBI36 |
| NG_011934.2:g.34092G>A , LRG_544:g.34092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.2289G>A MANE Select | ENSP00000347927.2:p.Arg763= | |
| ENST00000355699.6:c.2289G>A | ENSP00000347927.2:p.Arg763= | |
| ENST00000356589.6:c.2196G>A | ENSP00000348997.2:p.Arg732= | |
| ENST00000371916.5:c.1225-1433G>A | ENSP00000360984.2:n.1225-1433G>A | |
| ENST00000371929.7:c.2289G>A | ENSP00000360997.3:p.Arg763= | |
| ENST00000474918.1:c.*827G>A | ENSP00000435305.1:n.*827G>A | |
| ENST00000485925.5:n.1237-1433G>A | ||
| ENST00000495234.5:c.*1253-1433G>A | ENSP00000435274.1:n.*1253-1433G>A | |
| NM_139025.4:c.2289G>A , LRG_544t1:c.2289G>A | NP_620594.1:p.Arg763= | |
| NM_139026.4:c.2196G>A | NP_620595.1:p.Arg732= | |
| NM_139027.4:c.2289G>A | NP_620596.2:p.Arg763= | |
| NR_024514.2:n.1256-1433G>A | ||
| XM_011518174.1:c.1899G>A | XP_011516476.1:p.Arg633= | |
| XM_011518175.1:c.2289G>A | XP_011516477.1:p.Arg763= | |
| XM_011518176.1:c.1305G>A | XP_011516478.1:p.Arg435= | |
| XM_011518177.1:c.1299G>A | XP_011516479.1:p.Arg433= | |
| XM_011518178.1:c.954G>A | XP_011516480.1:p.Arg318= | |
| XM_011518179.1:c.954G>A | XP_011516481.1:p.Arg318= | |
| XM_011518180.1:c.687-1433G>A | XP_011516482.1:n.687-1433G>A | |
| XM_011518176.3:c.1305G>A | XP_011516478.1:p.Arg435= | |
| XM_011518178.2:c.954G>A | XP_011516480.1:p.Arg318= | |
| XM_017014232.1:c.2277G>A | XP_016869721.1:p.Arg759= | |
| XM_017014233.1:c.1899G>A | XP_016869722.1:p.Arg633= | |
| XM_017014234.2:c.1299G>A | XP_016869723.1:p.Arg433= | |
| XM_017014235.1:c.2234+687G>A | XP_016869724.1:n.2234+687G>A | |
| XR_001746171.1:n.3194-1433G>A | ||
| NM_139026.5:c.2196G>A | NP_620595.1:p.Arg732= | |
| NM_139027.5:c.2289G>A | NP_620596.2:p.Arg763= | |
| NM_139025.5:c.2289G>A | NP_620594.1:p.Arg763= | |
| NM_139026.6:c.2196G>A | NP_620595.1:p.Arg732= | |
| NM_139027.6:c.2289G>A MANE Select | NP_620596.2:p.Arg763= | |
| NR_024514.3:n.1258-1433G>A |