Linked Data
ClinVar Variation Id:
2683075
ClinVar RCV Id:
RCV003481942
dbSNP Id:
rs1554789261
gnomAD v4:
9-133436952-C-G
MyVariant Identifiers:
chr9:g.133436952C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436952C>G , CM000671.2:g.133436952C>G | GRCh38 |
| NC_000009.10:g.135291893C>G | NCBI36 |
| NG_011934.2:g.27614C>G , LRG_544:g.27614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1432C>G MANE Select | ENSP00000347927.2:p.Gln478Glu | |
| ENST00000355699.6:c.1432C>G | ENSP00000347927.2:p.Gln478Glu | |
| ENST00000356589.6:c.1339C>G | ENSP00000348997.2:p.Gln447Glu | |
| ENST00000371916.5:c.688C>G | ENSP00000360984.2:p.Gln230Glu | |
| ENST00000371929.7:c.1432C>G | ENSP00000360997.3:p.Gln478Glu | |
| ENST00000474918.1:c.*236C>G | ENSP00000435305.1:n.*236C>G | |
| ENST00000485925.5:n.974-2414C>G | ||
| ENST00000495234.5:c.*716C>G | ENSP00000435274.1:n.*716C>G | |
| NM_139025.4:c.1432C>G , LRG_544t1:c.1432C>G | NP_620594.1:p.Gln478Glu | |
| NM_139026.4:c.1339C>G | NP_620595.1:p.Gln447Glu | |
| NM_139027.4:c.1432C>G | NP_620596.2:p.Gln478Glu | |
| NR_024514.2:n.993-2414C>G | ||
| XM_011518174.1:c.1042C>G | XP_011516476.1:p.Gln348Glu | |
| XM_011518175.1:c.1432C>G | XP_011516477.1:p.Gln478Glu | |
| XM_011518176.1:c.448C>G | XP_011516478.1:p.Gln150Glu | |
| XM_011518177.1:c.442C>G | XP_011516479.1:p.Gln148Glu | |
| XM_011518178.1:c.97C>G | XP_011516480.1:p.Gln33Glu | |
| XM_011518179.1:c.218C>G | XP_011516481.1:p.Pro73Arg | |
| XM_011518180.1:c.687-7911C>G | XP_011516482.1:n.687-7911C>G | |
| XM_011518176.3:c.448C>G | XP_011516478.1:p.Gln150Glu | |
| XM_011518178.2:c.97C>G | XP_011516480.1:p.Gln33Glu | |
| XM_017014232.1:c.1420C>G | XP_016869721.1:p.Gln474Glu | |
| XM_017014233.1:c.1042C>G | XP_016869722.1:p.Gln348Glu | |
| XM_017014234.2:c.442C>G | XP_016869723.1:p.Gln148Glu | |
| XM_017014235.1:c.1432C>G | XP_016869724.1:p.Gln478Glu | |
| XR_001746171.1:n.2657C>G | ||
| NM_139026.5:c.1339C>G | NP_620595.1:p.Gln447Glu | |
| NM_139027.5:c.1432C>G | NP_620596.2:p.Gln478Glu | |
| NM_139025.5:c.1432C>G | NP_620594.1:p.Gln478Glu | |
| NM_139026.6:c.1339C>G | NP_620595.1:p.Gln447Glu | |
| NM_139027.6:c.1432C>G MANE Select | NP_620596.2:p.Gln478Glu | |
| NR_024514.3:n.995-2414C>G |