Linked Data
ClinVar Variation Id:
1933799
ClinVar RCV Id:
RCV002627231
dbSNP Id:
rs1564442755
gnomAD v4:
9-133454494-C-T
MyVariant Identifiers:
chr9:g.133454494C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454494C>T , CM000671.2:g.133454494C>T | GRCh38 |
| NC_000009.10:g.135309437C>T | NCBI36 |
| NG_011934.2:g.45156C>T , LRG_544:g.45156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3124C>T MANE Select | ENSP00000347927.2:p.Leu1042Phe | |
| ENST00000355699.6:c.3124C>T | ENSP00000347927.2:p.Leu1042Phe | |
| ENST00000356589.6:c.3031C>T | ENSP00000348997.2:p.Leu1011Phe | |
| ENST00000371916.5:c.*593C>T | ENSP00000360984.2:n.*593C>T | |
| ENST00000371929.7:c.3124C>T | ENSP00000360997.3:p.Leu1042Phe | |
| ENST00000485925.5:n.1940C>T | ||
| NM_139025.4:c.3124C>T , LRG_544t1:c.3124C>T | NP_620594.1:p.Leu1042Phe | |
| NM_139026.4:c.3031C>T | NP_620595.1:p.Leu1011Phe | |
| NM_139027.4:c.3124C>T | NP_620596.2:p.Leu1042Phe | |
| NR_024514.2:n.1959C>T | ||
| XM_011518174.1:c.2734C>T | XP_011516476.1:p.Leu912Phe | |
| XM_011518175.1:c.3124C>T | XP_011516477.1:p.Leu1042Phe | |
| XM_011518176.1:c.2140C>T | XP_011516478.1:p.Leu714Phe | |
| XM_011518177.1:c.2134C>T | XP_011516479.1:p.Leu712Phe | |
| XM_011518178.1:c.1789C>T | XP_011516480.1:p.Leu597Phe | |
| XM_011518179.1:c.1789C>T | XP_011516481.1:p.Leu597Phe | |
| XM_011518180.1:c.1390C>T | XP_011516482.1:p.Leu464Phe | |
| XM_011518176.3:c.2140C>T | XP_011516478.1:p.Leu714Phe | |
| XM_011518178.2:c.1789C>T | XP_011516480.1:p.Leu597Phe | |
| XM_017014232.1:c.3112C>T | XP_016869721.1:p.Leu1038Phe | |
| XM_017014233.1:c.2734C>T | XP_016869722.1:p.Leu912Phe | |
| XM_017014234.2:c.2134C>T | XP_016869723.1:p.Leu712Phe | |
| NM_139026.5:c.3031C>T | NP_620595.1:p.Leu1011Phe | |
| NM_139027.5:c.3124C>T | NP_620596.2:p.Leu1042Phe | |
| NM_139025.5:c.3124C>T | NP_620594.1:p.Leu1042Phe | |
| NM_139026.6:c.3031C>T | NP_620595.1:p.Leu1011Phe | |
| NM_139027.6:c.3124C>T MANE Select | NP_620596.2:p.Leu1042Phe | |
| NR_024514.3:n.1961C>T |