Linked Data
ClinVar Variation Id:
2179900
ClinVar RCV Id:
RCV002599375
dbSNP Id:
rs782174746
gnomAD v3:
9-133436847-C-A
gnomAD v4:
9-133436847-C-A
MyVariant Identifiers:
chr9:g.133436847C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436847C>A , CM000671.2:g.133436847C>A | GRCh38 |
| NC_000009.10:g.135291788C>A | NCBI36 |
| NG_011934.2:g.27509C>A , LRG_544:g.27509C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1327C>A MANE Select | ENSP00000347927.2:p.Leu443Met | |
| ENST00000355699.6:c.1327C>A | ENSP00000347927.2:p.Leu443Met | |
| ENST00000356589.6:c.1234C>A | ENSP00000348997.2:p.Leu412Met | |
| ENST00000371916.5:c.583C>A | ENSP00000360984.2:p.Leu195Met | |
| ENST00000371929.7:c.1327C>A | ENSP00000360997.3:p.Leu443Met | |
| ENST00000474918.1:c.*131C>A | ENSP00000435305.1:n.*131C>A | |
| ENST00000485925.5:n.974-2519C>A | ||
| ENST00000495234.5:c.*611C>A | ENSP00000435274.1:n.*611C>A | |
| NM_139025.4:c.1327C>A , LRG_544t1:c.1327C>A | NP_620594.1:p.Leu443Met | |
| NM_139026.4:c.1234C>A | NP_620595.1:p.Leu412Met | |
| NM_139027.4:c.1327C>A | NP_620596.2:p.Leu443Met | |
| NR_024514.2:n.993-2519C>A | ||
| XM_011518174.1:c.937C>A | XP_011516476.1:p.Leu313Met | |
| XM_011518175.1:c.1327C>A | XP_011516477.1:p.Leu443Met | |
| XM_011518176.1:c.343C>A | XP_011516478.1:p.Leu115Met | |
| XM_011518177.1:c.337C>A | XP_011516479.1:p.Leu113Met | |
| XM_011518178.1:c.-9C>A | XP_011516480.1:n.-9C>A | |
| XM_011518179.1:c.113C>A | XP_011516481.1:p.Ala38Asp | |
| XM_011518180.1:c.687-8016C>A | XP_011516482.1:n.687-8016C>A | |
| XM_011518176.3:c.343C>A | XP_011516478.1:p.Leu115Met | |
| XM_011518178.2:c.-9C>A | XP_011516480.1:n.-9C>A | |
| XM_017014232.1:c.1315C>A | XP_016869721.1:p.Leu439Met | |
| XM_017014233.1:c.937C>A | XP_016869722.1:p.Leu313Met | |
| XM_017014234.2:c.337C>A | XP_016869723.1:p.Leu113Met | |
| XM_017014235.1:c.1327C>A | XP_016869724.1:p.Leu443Met | |
| XR_001746171.1:n.2552C>A | ||
| NM_139026.5:c.1234C>A | NP_620595.1:p.Leu412Met | |
| NM_139027.5:c.1327C>A | NP_620596.2:p.Leu443Met | |
| NM_139025.5:c.1327C>A | NP_620594.1:p.Leu443Met | |
| NM_139026.6:c.1234C>A | NP_620595.1:p.Leu412Met | |
| NM_139027.6:c.1327C>A MANE Select | NP_620596.2:p.Leu443Met | |
| NR_024514.3:n.995-2519C>A |