MyVariant.info:
GRCh38
chr9:g.133440409C>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0886448 (NFE)
Genomes Max Group AF
0.08769492 (NFE)
Exomes Max Group AF
0.08860259 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133440409C>G , CM000671.2:g.133440409C>G | GRCh38 |
| NC_000009.10:g.135295351C>G | NCBI36 |
| NG_011934.2:g.31071C>G , LRG_544:g.31071C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1852C>G MANE Select | ENSP00000347927.2:p.Pro618Ala | |
| ENST00000355699.6:c.1852C>G | ENSP00000347927.2:p.Pro618Ala | |
| ENST00000356589.6:c.1759C>G | ENSP00000348997.2:p.Pro587Ala | |
| ENST00000371916.5:c.1108C>G | ENSP00000360984.2:p.Pro370Ala | |
| ENST00000371929.7:c.1852C>G | ENSP00000360997.3:p.Pro618Ala | |
| ENST00000474918.1:c.*656C>G | ENSP00000435305.1:n.*656C>G | |
| ENST00000485925.5:n.1120C>G | ||
| ENST00000495234.5:c.*1136C>G | ENSP00000435274.1:n.*1136C>G | |
| NM_139025.4:c.1852C>G , LRG_544t1:c.1852C>G | NP_620594.1:p.Pro618Ala | |
| NM_139026.4:c.1759C>G | NP_620595.1:p.Pro587Ala | |
| NM_139027.4:c.1852C>G | NP_620596.2:p.Pro618Ala | |
| NR_024514.2:n.1139C>G | ||
| XM_011518174.1:c.1462C>G | XP_011516476.1:p.Pro488Ala | |
| XM_011518175.1:c.1852C>G | XP_011516477.1:p.Pro618Ala | |
| XM_011518176.1:c.868C>G | XP_011516478.1:p.Pro290Ala | |
| XM_011518177.1:c.862C>G | XP_011516479.1:p.Pro288Ala | |
| XM_011518178.1:c.517C>G | XP_011516480.1:p.Pro173Ala | |
| XM_011518179.1:c.517C>G | XP_011516481.1:p.Pro173Ala | |
| XM_011518180.1:c.687-4454C>G | XP_011516482.1:n.687-4454C>G | |
| XM_011518176.3:c.868C>G | XP_011516478.1:p.Pro290Ala | |
| XM_011518178.2:c.517C>G | XP_011516480.1:p.Pro173Ala | |
| XM_017014232.1:c.1840C>G | XP_016869721.1:p.Pro614Ala | |
| XM_017014233.1:c.1462C>G | XP_016869722.1:p.Pro488Ala | |
| XM_017014234.2:c.862C>G | XP_016869723.1:p.Pro288Ala | |
| XM_017014235.1:c.1852C>G | XP_016869724.1:p.Pro618Ala | |
| XR_001746171.1:n.3077C>G | ||
| NM_139026.5:c.1759C>G | NP_620595.1:p.Pro587Ala | |
| NM_139027.5:c.1852C>G | NP_620596.2:p.Pro618Ala | |
| NM_139025.5:c.1852C>G | NP_620594.1:p.Pro618Ala | |
| NM_139026.6:c.1759C>G | NP_620595.1:p.Pro587Ala | |
| NM_139027.6:c.1852C>G MANE Select | NP_620596.2:p.Pro618Ala | |
| NR_024514.3:n.1141C>G |