Linked Data
ClinVar Variation Id:
5811
ClinVar RCV Id:
RCV000006167
dbSNP Id:
rs121908476
gnomAD v3:
9-133436865-C-T
gnomAD v4:
9-133436865-C-T
MyVariant Identifiers:
chr9:g.133436865C>T (hg38)
PubMed:
PMID:12181489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436865C>T , CM000671.2:g.133436865C>T | GRCh38 |
| NC_000009.10:g.135291806C>T | NCBI36 |
| NG_011934.2:g.27527C>T , LRG_544:g.27527C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.1345C>T MANE Select | ENSP00000347927.2:p.Gln449Ter | |
| ENST00000355699.6:c.1345C>T | ENSP00000347927.2:p.Gln449Ter | |
| ENST00000356589.6:c.1252C>T | ENSP00000348997.2:p.Gln418Ter | |
| ENST00000371916.5:c.601C>T | ENSP00000360984.2:p.Gln201Ter | |
| ENST00000371929.7:c.1345C>T | ENSP00000360997.3:p.Gln449Ter | |
| ENST00000474918.1:c.*149C>T | ENSP00000435305.1:n.*149C>T | |
| ENST00000485925.5:n.974-2501C>T | ||
| ENST00000495234.5:c.*629C>T | ENSP00000435274.1:n.*629C>T | |
| NM_139025.4:c.1345C>T , LRG_544t1:c.1345C>T | NP_620594.1:p.Gln449Ter | |
| NM_139026.4:c.1252C>T | NP_620595.1:p.Gln418Ter | |
| NM_139027.4:c.1345C>T | NP_620596.2:p.Gln449Ter | |
| NR_024514.2:n.993-2501C>T | ||
| XM_011518174.1:c.955C>T | XP_011516476.1:p.Gln319Ter | |
| XM_011518175.1:c.1345C>T | XP_011516477.1:p.Gln449Ter | |
| XM_011518176.1:c.361C>T | XP_011516478.1:p.Gln121Ter | |
| XM_011518177.1:c.355C>T | XP_011516479.1:p.Gln119Ter | |
| XM_011518178.1:c.10C>T | XP_011516480.1:p.Gln4Ter | |
| XM_011518179.1:c.131C>T | XP_011516481.1:p.Thr44Ile | |
| XM_011518180.1:c.687-7998C>T | XP_011516482.1:n.687-7998C>T | |
| XM_011518176.3:c.361C>T | XP_011516478.1:p.Gln121Ter | |
| XM_011518178.2:c.10C>T | XP_011516480.1:p.Gln4Ter | |
| XM_017014232.1:c.1333C>T | XP_016869721.1:p.Gln445Ter | |
| XM_017014233.1:c.955C>T | XP_016869722.1:p.Gln319Ter | |
| XM_017014234.2:c.355C>T | XP_016869723.1:p.Gln119Ter | |
| XM_017014235.1:c.1345C>T | XP_016869724.1:p.Gln449Ter | |
| XR_001746171.1:n.2570C>T | ||
| NM_139026.5:c.1252C>T | NP_620595.1:p.Gln418Ter | |
| NM_139027.5:c.1345C>T | NP_620596.2:p.Gln449Ter | |
| NM_139025.5:c.1345C>T | NP_620594.1:p.Gln449Ter | |
| NM_139026.6:c.1252C>T | NP_620595.1:p.Gln418Ter | |
| NM_139027.6:c.1345C>T MANE Select | NP_620596.2:p.Gln449Ter | |
| NR_024514.3:n.995-2501C>T |