Linked Data
ClinVar Variation Id:
1916540
ClinVar RCV Id:
RCV002590504
dbSNP Id:
rs1244426963
gnomAD v3:
9-133449873-C-T
gnomAD v4:
9-133449873-C-T
MyVariant Identifiers:
chr9:g.133449873C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133449873C>T , CM000671.2:g.133449873C>T | GRCh38 |
| NC_000009.10:g.135304815C>T | NCBI36 |
| NG_011934.2:g.40535C>T , LRG_544:g.40535C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.2952C>T MANE Select | ENSP00000347927.2:p.Asp984= | |
| ENST00000355699.6:c.2952C>T | ENSP00000347927.2:p.Asp984= | |
| ENST00000356589.6:c.2859C>T | ENSP00000348997.2:p.Asp953= | |
| ENST00000371916.5:c.*421C>T | ENSP00000360984.2:n.*421C>T | |
| ENST00000371929.7:c.2952C>T | ENSP00000360997.3:p.Asp984= | |
| ENST00000485925.5:n.1768C>T | ||
| ENST00000495234.5:c.*1784C>T | ENSP00000435274.1:n.*1784C>T | |
| NM_139025.4:c.2952C>T , LRG_544t1:c.2952C>T | NP_620594.1:p.Asp984= | |
| NM_139026.4:c.2859C>T | NP_620595.1:p.Asp953= | |
| NM_139027.4:c.2952C>T | NP_620596.2:p.Asp984= | |
| NR_024514.2:n.1787C>T | ||
| XM_011518174.1:c.2562C>T | XP_011516476.1:p.Asp854= | |
| XM_011518175.1:c.2952C>T | XP_011516477.1:p.Asp984= | |
| XM_011518176.1:c.1968C>T | XP_011516478.1:p.Asp656= | |
| XM_011518177.1:c.1962C>T | XP_011516479.1:p.Asp654= | |
| XM_011518178.1:c.1617C>T | XP_011516480.1:p.Asp539= | |
| XM_011518179.1:c.1617C>T | XP_011516481.1:p.Asp539= | |
| XM_011518180.1:c.1218C>T | XP_011516482.1:p.Asp406= | |
| XM_011518176.3:c.1968C>T | XP_011516478.1:p.Asp656= | |
| XM_011518178.2:c.1617C>T | XP_011516480.1:p.Asp539= | |
| XM_017014232.1:c.2940C>T | XP_016869721.1:p.Asp980= | |
| XM_017014233.1:c.2562C>T | XP_016869722.1:p.Asp854= | |
| XM_017014234.2:c.1962C>T | XP_016869723.1:p.Asp654= | |
| XR_001746171.1:n.3725C>T | ||
| NM_139026.5:c.2859C>T | NP_620595.1:p.Asp953= | |
| NM_139027.5:c.2952C>T | NP_620596.2:p.Asp984= | |
| NM_139025.5:c.2952C>T | NP_620594.1:p.Asp984= | |
| NM_139026.6:c.2859C>T | NP_620595.1:p.Asp953= | |
| NM_139027.6:c.2952C>T MANE Select | NP_620596.2:p.Asp984= | |
| NR_024514.3:n.1789C>T |