Linked Data
ClinVar Variation Id:
68805
dbSNP Id:
rs281875299
gnomAD v4:
9-133440344-C-T
COSMIC:
COSM3905298
MyVariant Identifiers:
chr9:g.133440344C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133440344C>T , CM000671.2:g.133440344C>T | GRCh38 |
| NC_000009.10:g.135295286C>T | NCBI36 |
| NG_011934.2:g.31006C>T , LRG_544:g.31006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1787C>T MANE Select | ENSP00000347927.2:p.Ala596Val | |
| ENST00000355699.6:c.1787C>T | ENSP00000347927.2:p.Ala596Val | |
| ENST00000356589.6:c.1694C>T | ENSP00000348997.2:p.Ala565Val | |
| ENST00000371916.5:c.1043C>T | ENSP00000360984.2:p.Ala348Val | |
| ENST00000371929.7:c.1787C>T | ENSP00000360997.3:p.Ala596Val | |
| ENST00000474918.1:c.*591C>T | ENSP00000435305.1:n.*591C>T | |
| ENST00000485925.5:n.1055C>T | ||
| ENST00000495234.5:c.*1071C>T | ENSP00000435274.1:n.*1071C>T | |
| NM_139025.4:c.1787C>T , LRG_544t1:c.1787C>T | NP_620594.1:p.Ala596Val | |
| NM_139026.4:c.1694C>T | NP_620595.1:p.Ala565Val | |
| NM_139027.4:c.1787C>T | NP_620596.2:p.Ala596Val | |
| NR_024514.2:n.1074C>T | ||
| XM_011518174.1:c.1397C>T | XP_011516476.1:p.Ala466Val | |
| XM_011518175.1:c.1787C>T | XP_011516477.1:p.Ala596Val | |
| XM_011518176.1:c.803C>T | XP_011516478.1:p.Ala268Val | |
| XM_011518177.1:c.797C>T | XP_011516479.1:p.Ala266Val | |
| XM_011518178.1:c.452C>T | XP_011516480.1:p.Ala151Val | |
| XM_011518179.1:c.452C>T | XP_011516481.1:p.Ala151Val | |
| XM_011518180.1:c.687-4519C>T | XP_011516482.1:n.687-4519C>T | |
| XM_011518176.3:c.803C>T | XP_011516478.1:p.Ala268Val | |
| XM_011518178.2:c.452C>T | XP_011516480.1:p.Ala151Val | |
| XM_017014232.1:c.1775C>T | XP_016869721.1:p.Ala592Val | |
| XM_017014233.1:c.1397C>T | XP_016869722.1:p.Ala466Val | |
| XM_017014234.2:c.797C>T | XP_016869723.1:p.Ala266Val | |
| XM_017014235.1:c.1787C>T | XP_016869724.1:p.Ala596Val | |
| XR_001746171.1:n.3012C>T | ||
| NM_139026.5:c.1694C>T | NP_620595.1:p.Ala565Val | |
| NM_139027.5:c.1787C>T | NP_620596.2:p.Ala596Val | |
| NM_139025.5:c.1787C>T | NP_620594.1:p.Ala596Val | |
| NM_139026.6:c.1694C>T | NP_620595.1:p.Ala565Val | |
| NM_139027.6:c.1787C>T MANE Select | NP_620596.2:p.Ala596Val | |
| NR_024514.3:n.1076C>T |