Linked Data
dbSNP Id:
rs370359180
gnomAD v4:
9-133454430-C-A
COSMIC:
COSM753275
MyVariant Identifiers:
chr9:g.133454430C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454430C>A , CM000671.2:g.133454430C>A | GRCh38 |
| NC_000009.10:g.135309373C>A | NCBI36 |
| NG_011934.2:g.45092C>A , LRG_544:g.45092C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3060C>A MANE Select | ENSP00000347927.2:p.Ser1020= | |
| ENST00000355699.6:c.3060C>A | ENSP00000347927.2:p.Ser1020= | |
| ENST00000356589.6:c.2967C>A | ENSP00000348997.2:p.Ser989= | |
| ENST00000371916.5:c.*529C>A | ENSP00000360984.2:n.*529C>A | |
| ENST00000371929.7:c.3060C>A | ENSP00000360997.3:p.Ser1020= | |
| ENST00000485925.5:n.1876C>A | ||
| NM_139025.4:c.3060C>A , LRG_544t1:c.3060C>A | NP_620594.1:p.Ser1020= | |
| NM_139026.4:c.2967C>A | NP_620595.1:p.Ser989= | |
| NM_139027.4:c.3060C>A | NP_620596.2:p.Ser1020= | |
| NR_024514.2:n.1895C>A | ||
| XM_011518174.1:c.2670C>A | XP_011516476.1:p.Ser890= | |
| XM_011518175.1:c.3060C>A | XP_011516477.1:p.Ser1020= | |
| XM_011518176.1:c.2076C>A | XP_011516478.1:p.Ser692= | |
| XM_011518177.1:c.2070C>A | XP_011516479.1:p.Ser690= | |
| XM_011518178.1:c.1725C>A | XP_011516480.1:p.Ser575= | |
| XM_011518179.1:c.1725C>A | XP_011516481.1:p.Ser575= | |
| XM_011518180.1:c.1326C>A | XP_011516482.1:p.Ser442= | |
| XM_011518176.3:c.2076C>A | XP_011516478.1:p.Ser692= | |
| XM_011518178.2:c.1725C>A | XP_011516480.1:p.Ser575= | |
| XM_017014232.1:c.3048C>A | XP_016869721.1:p.Ser1016= | |
| XM_017014233.1:c.2670C>A | XP_016869722.1:p.Ser890= | |
| XM_017014234.2:c.2070C>A | XP_016869723.1:p.Ser690= | |
| XR_001746171.1:n.3833C>A | ||
| NM_139026.5:c.2967C>A | NP_620595.1:p.Ser989= | |
| NM_139027.5:c.3060C>A | NP_620596.2:p.Ser1020= | |
| NM_139025.5:c.3060C>A | NP_620594.1:p.Ser1020= | |
| NM_139026.6:c.2967C>A | NP_620595.1:p.Ser989= | |
| NM_139027.6:c.3060C>A MANE Select | NP_620596.2:p.Ser1020= | |
| NR_024514.3:n.1897C>A |