Linked Data
ClinVar Variation Id:
2634657
ClinVar RCV Id:
RCV003418766
dbSNP Id:
rs782585313
gnomAD v3:
9-133454512-G-A
gnomAD v4:
9-133454512-G-A
MyVariant Identifiers:
chr9:g.133454512G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454512G>A , CM000671.2:g.133454512G>A | GRCh38 |
| NC_000009.10:g.135309455G>A | NCBI36 |
| NG_011934.2:g.45174G>A , LRG_544:g.45174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3142G>A MANE Select | ENSP00000347927.2:p.Val1048Met | |
| ENST00000355699.6:c.3142G>A | ENSP00000347927.2:p.Val1048Met | |
| ENST00000356589.6:c.3049G>A | ENSP00000348997.2:p.Val1017Met | |
| ENST00000371916.5:c.*611G>A | ENSP00000360984.2:n.*611G>A | |
| ENST00000371929.7:c.3142G>A | ENSP00000360997.3:p.Val1048Met | |
| ENST00000485925.5:n.1958G>A | ||
| NM_139025.4:c.3142G>A , LRG_544t1:c.3142G>A | NP_620594.1:p.Val1048Met | |
| NM_139026.4:c.3049G>A | NP_620595.1:p.Val1017Met | |
| NM_139027.4:c.3142G>A | NP_620596.2:p.Val1048Met | |
| NR_024514.2:n.1977G>A | ||
| XM_011518174.1:c.2752G>A | XP_011516476.1:p.Val918Met | |
| XM_011518175.1:c.3142G>A | XP_011516477.1:p.Val1048Met | |
| XM_011518176.1:c.2158G>A | XP_011516478.1:p.Val720Met | |
| XM_011518177.1:c.2152G>A | XP_011516479.1:p.Val718Met | |
| XM_011518178.1:c.1807G>A | XP_011516480.1:p.Val603Met | |
| XM_011518179.1:c.1807G>A | XP_011516481.1:p.Val603Met | |
| XM_011518180.1:c.1408G>A | XP_011516482.1:p.Val470Met | |
| XM_011518176.3:c.2158G>A | XP_011516478.1:p.Val720Met | |
| XM_011518178.2:c.1807G>A | XP_011516480.1:p.Val603Met | |
| XM_017014232.1:c.3130G>A | XP_016869721.1:p.Val1044Met | |
| XM_017014233.1:c.2752G>A | XP_016869722.1:p.Val918Met | |
| XM_017014234.2:c.2152G>A | XP_016869723.1:p.Val718Met | |
| NM_139026.5:c.3049G>A | NP_620595.1:p.Val1017Met | |
| NM_139027.5:c.3142G>A | NP_620596.2:p.Val1048Met | |
| NM_139025.5:c.3142G>A | NP_620594.1:p.Val1048Met | |
| NM_139026.6:c.3049G>A | NP_620595.1:p.Val1017Met | |
| NM_139027.6:c.3142G>A MANE Select | NP_620596.2:p.Val1048Met | |
| NR_024514.3:n.1979G>A |