Linked Data
dbSNP Id:
rs782076268
gnomAD v4:
9-133436880-G-C
MyVariant Identifiers:
chr9:g.133436880G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436880G>C , CM000671.2:g.133436880G>C | GRCh38 |
| NC_000009.10:g.135291821G>C | NCBI36 |
| NG_011934.2:g.27542G>C , LRG_544:g.27542G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1360G>C MANE Select | ENSP00000347927.2:p.Asp454His | |
| ENST00000355699.6:c.1360G>C | ENSP00000347927.2:p.Asp454His | |
| ENST00000356589.6:c.1267G>C | ENSP00000348997.2:p.Asp423His | |
| ENST00000371916.5:c.616G>C | ENSP00000360984.2:p.Asp206His | |
| ENST00000371929.7:c.1360G>C | ENSP00000360997.3:p.Asp454His | |
| ENST00000474918.1:c.*164G>C | ENSP00000435305.1:n.*164G>C | |
| ENST00000485925.5:n.974-2486G>C | ||
| ENST00000495234.5:c.*644G>C | ENSP00000435274.1:n.*644G>C | |
| NM_139025.4:c.1360G>C , LRG_544t1:c.1360G>C | NP_620594.1:p.Asp454His | |
| NM_139026.4:c.1267G>C | NP_620595.1:p.Asp423His | |
| NM_139027.4:c.1360G>C | NP_620596.2:p.Asp454His | |
| NR_024514.2:n.993-2486G>C | ||
| XM_011518174.1:c.970G>C | XP_011516476.1:p.Asp324His | |
| XM_011518175.1:c.1360G>C | XP_011516477.1:p.Asp454His | |
| XM_011518176.1:c.376G>C | XP_011516478.1:p.Asp126His | |
| XM_011518177.1:c.370G>C | XP_011516479.1:p.Asp124His | |
| XM_011518178.1:c.25G>C | XP_011516480.1:p.Asp9His | |
| XM_011518179.1:c.146G>C | XP_011516481.1:p.Arg49Pro | |
| XM_011518180.1:c.687-7983G>C | XP_011516482.1:n.687-7983G>C | |
| XM_011518176.3:c.376G>C | XP_011516478.1:p.Asp126His | |
| XM_011518178.2:c.25G>C | XP_011516480.1:p.Asp9His | |
| XM_017014232.1:c.1348G>C | XP_016869721.1:p.Asp450His | |
| XM_017014233.1:c.970G>C | XP_016869722.1:p.Asp324His | |
| XM_017014234.2:c.370G>C | XP_016869723.1:p.Asp124His | |
| XM_017014235.1:c.1360G>C | XP_016869724.1:p.Asp454His | |
| XR_001746171.1:n.2585G>C | ||
| NM_139026.5:c.1267G>C | NP_620595.1:p.Asp423His | |
| NM_139027.5:c.1360G>C | NP_620596.2:p.Asp454His | |
| NM_139025.5:c.1360G>C | NP_620594.1:p.Asp454His | |
| NM_139026.6:c.1267G>C | NP_620595.1:p.Asp423His | |
| NM_139027.6:c.1360G>C MANE Select | NP_620596.2:p.Asp454His | |
| NR_024514.3:n.995-2486G>C |