Linked Data
ClinVar Variation Id:
5818
ClinVar RCV Id:
RCV000006174
dbSNP Id:
rs121908478
gnomAD v4:
9-133428696-C-T
MyVariant Identifiers:
chr9:g.133428696C>T (hg38)
PubMed:
PMID:15126318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133428696C>T , CM000671.2:g.133428696C>T | GRCh38 |
| NC_000009.10:g.135283637C>T | NCBI36 |
| NG_011934.2:g.19358C>T , LRG_544:g.19358C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.749C>T MANE Select | ENSP00000347927.2:p.Ala250Val | |
| ENST00000355699.6:c.749C>T | ENSP00000347927.2:p.Ala250Val | |
| ENST00000356589.6:c.749C>T | ENSP00000348997.2:p.Ala250Val | |
| ENST00000371911.7:c.749C>T | ENSP00000360979.3:p.Ala250Val | |
| ENST00000371916.5:c.5C>T | ENSP00000360984.2:p.Ala2Val | |
| ENST00000371929.7:c.749C>T | ENSP00000360997.3:p.Ala250Val | |
| ENST00000474918.1:c.686+2351C>T | ENSP00000435305.1:n.686+2351C>T | |
| ENST00000485925.5:n.868+2351C>T | ||
| ENST00000495234.5:c.749C>T | ENSP00000435274.1:p.Ala250Val | |
| NM_139025.4:c.749C>T , LRG_544t1:c.749C>T | NP_620594.1:p.Ala250Val | |
| NM_139026.4:c.749C>T | NP_620595.1:p.Ala250Val | |
| NM_139027.4:c.749C>T | NP_620596.2:p.Ala250Val | |
| NR_024514.2:n.887+2351C>T | ||
| XM_011518174.1:c.359C>T | XP_011516476.1:p.Ala120Val | |
| XM_011518175.1:c.749C>T | XP_011516477.1:p.Ala250Val | |
| XM_011518177.1:c.-4+2351C>T | XP_011516479.1:n.-4+2351C>T | |
| XM_011518180.1:c.686+2351C>T | XP_011516482.1:n.686+2351C>T | |
| XM_017014232.1:c.737C>T | XP_016869721.1:p.Ala246Val | |
| XM_017014233.1:c.359C>T | XP_016869722.1:p.Ala120Val | |
| XM_017014234.2:c.-4+2351C>T | XP_016869723.1:n.-4+2351C>T | |
| XM_017014235.1:c.749C>T | XP_016869724.1:p.Ala250Val | |
| XR_001746171.1:n.1974C>T | ||
| NM_139026.5:c.749C>T | NP_620595.1:p.Ala250Val | |
| NM_139027.5:c.749C>T | NP_620596.2:p.Ala250Val | |
| NM_139025.5:c.749C>T | NP_620594.1:p.Ala250Val | |
| NM_139026.6:c.749C>T | NP_620595.1:p.Ala250Val | |
| NM_139027.6:c.749C>T MANE Select | NP_620596.2:p.Ala250Val | |
| NR_024514.3:n.889+2351C>T |