Linked Data
ClinVar Variation Id:
242806
dbSNP Id:
rs2301612
gnomAD v3:
9-133436862-C-G
gnomAD v4:
9-133436862-C-G
COSMIC:
COSM3763721
MyVariant Identifiers:
chr9:g.133436862C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436862C>G , CM000671.2:g.133436862C>G | GRCh38 |
| NC_000009.10:g.135291803C>G | NCBI36 |
| NG_011934.2:g.27524C>G , LRG_544:g.27524C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1342C>G MANE Select | ENSP00000347927.2:p.Gln448Glu | |
| ENST00000355699.6:c.1342C>G | ENSP00000347927.2:p.Gln448Glu | |
| ENST00000356589.6:c.1249C>G | ENSP00000348997.2:p.Gln417Glu | |
| ENST00000371916.5:c.598C>G | ENSP00000360984.2:p.Gln200Glu | |
| ENST00000371929.7:c.1342C>G | ENSP00000360997.3:p.Gln448Glu | |
| ENST00000474918.1:c.*146C>G | ENSP00000435305.1:n.*146C>G | |
| ENST00000485925.5:n.974-2504C>G | ||
| ENST00000495234.5:c.*626C>G | ENSP00000435274.1:n.*626C>G | |
| NM_139025.4:c.1342C>G , LRG_544t1:c.1342C>G | NP_620594.1:p.Gln448Glu | |
| NM_139026.4:c.1249C>G | NP_620595.1:p.Gln417Glu | |
| NM_139027.4:c.1342C>G | NP_620596.2:p.Gln448Glu | |
| NR_024514.2:n.993-2504C>G | ||
| XM_011518174.1:c.952C>G | XP_011516476.1:p.Gln318Glu | |
| XM_011518175.1:c.1342C>G | XP_011516477.1:p.Gln448Glu | |
| XM_011518176.1:c.358C>G | XP_011516478.1:p.Gln120Glu | |
| XM_011518177.1:c.352C>G | XP_011516479.1:p.Gln118Glu | |
| XM_011518178.1:c.7C>G | XP_011516480.1:p.Gln3Glu | |
| XM_011518179.1:c.128C>G | XP_011516481.1:p.Ala43Gly | |
| XM_011518180.1:c.687-8001C>G | XP_011516482.1:n.687-8001C>G | |
| XM_011518176.3:c.358C>G | XP_011516478.1:p.Gln120Glu | |
| XM_011518178.2:c.7C>G | XP_011516480.1:p.Gln3Glu | |
| XM_017014232.1:c.1330C>G | XP_016869721.1:p.Gln444Glu | |
| XM_017014233.1:c.952C>G | XP_016869722.1:p.Gln318Glu | |
| XM_017014234.2:c.352C>G | XP_016869723.1:p.Gln118Glu | |
| XM_017014235.1:c.1342C>G | XP_016869724.1:p.Gln448Glu | |
| XR_001746171.1:n.2567C>G | ||
| NM_139026.5:c.1249C>G | NP_620595.1:p.Gln417Glu | |
| NM_139027.5:c.1342C>G | NP_620596.2:p.Gln448Glu | |
| NM_139025.5:c.1342C>G | NP_620594.1:p.Gln448Glu | |
| NM_139026.6:c.1249C>G | NP_620595.1:p.Gln417Glu | |
| NM_139027.6:c.1342C>G MANE Select | NP_620596.2:p.Gln448Glu | |
| NR_024514.3:n.995-2504C>G |