Linked Data
dbSNP Id:
rs1223060835
gnomAD v3:
9-133448667-G-C
gnomAD v4:
9-133448667-G-C
MyVariant Identifiers:
chr9:g.133448667G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133448667G>C , CM000671.2:g.133448667G>C | GRCh38 |
| NC_000009.10:g.135303609G>C | NCBI36 |
| NG_011934.2:g.39329G>C , LRG_544:g.39329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.2800G>C MANE Select | ENSP00000347927.2:p.Gly934Arg | |
| ENST00000355699.6:c.2800G>C | ENSP00000347927.2:p.Gly934Arg | |
| ENST00000356589.6:c.2707G>C | ENSP00000348997.2:p.Gly903Arg | |
| ENST00000371916.5:c.*269G>C | ENSP00000360984.2:n.*269G>C | |
| ENST00000371929.7:c.2800G>C | ENSP00000360997.3:p.Gly934Arg | |
| ENST00000485925.5:n.1616G>C | ||
| ENST00000495234.5:c.*1632G>C | ENSP00000435274.1:n.*1632G>C | |
| NM_139025.4:c.2800G>C , LRG_544t1:c.2800G>C | NP_620594.1:p.Gly934Arg | |
| NM_139026.4:c.2707G>C | NP_620595.1:p.Gly903Arg | |
| NM_139027.4:c.2800G>C | NP_620596.2:p.Gly934Arg | |
| NR_024514.2:n.1635G>C | ||
| XM_011518174.1:c.2410G>C | XP_011516476.1:p.Gly804Arg | |
| XM_011518175.1:c.2800G>C | XP_011516477.1:p.Gly934Arg | |
| XM_011518176.1:c.1816G>C | XP_011516478.1:p.Gly606Arg | |
| XM_011518177.1:c.1810G>C | XP_011516479.1:p.Gly604Arg | |
| XM_011518178.1:c.1465G>C | XP_011516480.1:p.Gly489Arg | |
| XM_011518179.1:c.1465G>C | XP_011516481.1:p.Gly489Arg | |
| XM_011518180.1:c.1066G>C | XP_011516482.1:p.Gly356Arg | |
| XM_011518176.3:c.1816G>C | XP_011516478.1:p.Gly606Arg | |
| XM_011518178.2:c.1465G>C | XP_011516480.1:p.Gly489Arg | |
| XM_017014232.1:c.2788G>C | XP_016869721.1:p.Gly930Arg | |
| XM_017014233.1:c.2410G>C | XP_016869722.1:p.Gly804Arg | |
| XM_017014234.2:c.1810G>C | XP_016869723.1:p.Gly604Arg | |
| XR_001746171.1:n.3573G>C | ||
| NM_139026.5:c.2707G>C | NP_620595.1:p.Gly903Arg | |
| NM_139027.5:c.2800G>C | NP_620596.2:p.Gly934Arg | |
| NM_139025.5:c.2800G>C | NP_620594.1:p.Gly934Arg | |
| NM_139026.6:c.2707G>C | NP_620595.1:p.Gly903Arg | |
| NM_139027.6:c.2800G>C MANE Select | NP_620596.2:p.Gly934Arg | |
| NR_024514.3:n.1637G>C |