Linked Data
gnomAD v4:
9-133454429-C-T
COSMIC:
COSM5912890
MyVariant Identifiers:
chr9:g.133454429C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454429C>T , CM000671.2:g.133454429C>T | GRCh38 |
| NC_000009.10:g.135309372C>T | NCBI36 |
| NG_011934.2:g.45091C>T , LRG_544:g.45091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3059C>T MANE Select | ENSP00000347927.2:p.Ser1020Phe | |
| ENST00000355699.6:c.3059C>T | ENSP00000347927.2:p.Ser1020Phe | |
| ENST00000356589.6:c.2966C>T | ENSP00000348997.2:p.Ser989Phe | |
| ENST00000371916.5:c.*528C>T | ENSP00000360984.2:n.*528C>T | |
| ENST00000371929.7:c.3059C>T | ENSP00000360997.3:p.Ser1020Phe | |
| ENST00000485925.5:n.1875C>T | ||
| NM_139025.4:c.3059C>T , LRG_544t1:c.3059C>T | NP_620594.1:p.Ser1020Phe | |
| NM_139026.4:c.2966C>T | NP_620595.1:p.Ser989Phe | |
| NM_139027.4:c.3059C>T | NP_620596.2:p.Ser1020Phe | |
| NR_024514.2:n.1894C>T | ||
| XM_011518174.1:c.2669C>T | XP_011516476.1:p.Ser890Phe | |
| XM_011518175.1:c.3059C>T | XP_011516477.1:p.Ser1020Phe | |
| XM_011518176.1:c.2075C>T | XP_011516478.1:p.Ser692Phe | |
| XM_011518177.1:c.2069C>T | XP_011516479.1:p.Ser690Phe | |
| XM_011518178.1:c.1724C>T | XP_011516480.1:p.Ser575Phe | |
| XM_011518179.1:c.1724C>T | XP_011516481.1:p.Ser575Phe | |
| XM_011518180.1:c.1325C>T | XP_011516482.1:p.Ser442Phe | |
| XM_011518176.3:c.2075C>T | XP_011516478.1:p.Ser692Phe | |
| XM_011518178.2:c.1724C>T | XP_011516480.1:p.Ser575Phe | |
| XM_017014232.1:c.3047C>T | XP_016869721.1:p.Ser1016Phe | |
| XM_017014233.1:c.2669C>T | XP_016869722.1:p.Ser890Phe | |
| XM_017014234.2:c.2069C>T | XP_016869723.1:p.Ser690Phe | |
| XR_001746171.1:n.3832C>T | ||
| NM_139026.5:c.2966C>T | NP_620595.1:p.Ser989Phe | |
| NM_139027.5:c.3059C>T | NP_620596.2:p.Ser1020Phe | |
| NM_139025.5:c.3059C>T | NP_620594.1:p.Ser1020Phe | |
| NM_139026.6:c.2966C>T | NP_620595.1:p.Ser989Phe | |
| NM_139027.6:c.3059C>T MANE Select | NP_620596.2:p.Ser1020Phe | |
| NR_024514.3:n.1896C>T |