Linked Data
ClinVar Variation Id:
5814
dbSNP Id:
rs11575933
gnomAD v3:
9-133436943-C-T
gnomAD v4:
9-133436943-C-T
COSMIC:
COSM1739556
MyVariant Identifiers:
chr9:g.133436943C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436943C>T , CM000671.2:g.133436943C>T | GRCh38 |
| NC_000009.10:g.135291884C>T | NCBI36 |
| NG_011934.2:g.27605C>T , LRG_544:g.27605C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.1423C>T MANE Select | ENSP00000347927.2:p.Pro475Ser | |
| ENST00000355699.6:c.1423C>T | ENSP00000347927.2:p.Pro475Ser | |
| ENST00000356589.6:c.1330C>T | ENSP00000348997.2:p.Pro444Ser | |
| ENST00000371916.5:c.679C>T | ENSP00000360984.2:p.Pro227Ser | |
| ENST00000371929.7:c.1423C>T | ENSP00000360997.3:p.Pro475Ser | |
| ENST00000474918.1:c.*227C>T | ENSP00000435305.1:n.*227C>T | |
| ENST00000485925.5:n.974-2423C>T | ||
| ENST00000495234.5:c.*707C>T | ENSP00000435274.1:n.*707C>T | |
| NM_139025.4:c.1423C>T , LRG_544t1:c.1423C>T | NP_620594.1:p.Pro475Ser | |
| NM_139026.4:c.1330C>T | NP_620595.1:p.Pro444Ser | |
| NM_139027.4:c.1423C>T | NP_620596.2:p.Pro475Ser | |
| NR_024514.2:n.993-2423C>T | ||
| XM_011518174.1:c.1033C>T | XP_011516476.1:p.Pro345Ser | |
| XM_011518175.1:c.1423C>T | XP_011516477.1:p.Pro475Ser | |
| XM_011518176.1:c.439C>T | XP_011516478.1:p.Pro147Ser | |
| XM_011518177.1:c.433C>T | XP_011516479.1:p.Pro145Ser | |
| XM_011518178.1:c.88C>T | XP_011516480.1:p.Pro30Ser | |
| XM_011518179.1:c.209C>T | XP_011516481.1:p.Thr70Ile | |
| XM_011518180.1:c.687-7920C>T | XP_011516482.1:n.687-7920C>T | |
| XM_011518176.3:c.439C>T | XP_011516478.1:p.Pro147Ser | |
| XM_011518178.2:c.88C>T | XP_011516480.1:p.Pro30Ser | |
| XM_017014232.1:c.1411C>T | XP_016869721.1:p.Pro471Ser | |
| XM_017014233.1:c.1033C>T | XP_016869722.1:p.Pro345Ser | |
| XM_017014234.2:c.433C>T | XP_016869723.1:p.Pro145Ser | |
| XM_017014235.1:c.1423C>T | XP_016869724.1:p.Pro475Ser | |
| XR_001746171.1:n.2648C>T | ||
| NM_139026.5:c.1330C>T | NP_620595.1:p.Pro444Ser | |
| NM_139027.5:c.1423C>T | NP_620596.2:p.Pro475Ser | |
| NM_139025.5:c.1423C>T | NP_620594.1:p.Pro475Ser | |
| NM_139026.6:c.1330C>T | NP_620595.1:p.Pro444Ser | |
| NM_139027.6:c.1423C>T MANE Select | NP_620596.2:p.Pro475Ser | |
| NR_024514.3:n.995-2423C>T |