MyVariant.info:
GRCh38
chr9:g.133454548C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454548C>A , CM000671.2:g.133454548C>A | GRCh38 |
| NC_000009.10:g.135309491C>A | NCBI36 |
| NG_011934.2:g.45210C>A , LRG_544:g.45210C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3178C>A MANE Select | ENSP00000347927.2:p.Arg1060= | |
| ENST00000355699.6:c.3178C>A | ENSP00000347927.2:p.Arg1060= | |
| ENST00000356589.6:c.3085C>A | ENSP00000348997.2:p.Arg1029= | |
| ENST00000371916.5:c.*647C>A | ENSP00000360984.2:n.*647C>A | |
| ENST00000371929.7:c.3178C>A | ENSP00000360997.3:p.Arg1060= | |
| ENST00000485925.5:n.1994C>A | ||
| NM_139025.4:c.3178C>A , LRG_544t1:c.3178C>A | NP_620594.1:p.Arg1060= | |
| NM_139026.4:c.3085C>A | NP_620595.1:p.Arg1029= | |
| NM_139027.4:c.3178C>A | NP_620596.2:p.Arg1060= | |
| NR_024514.2:n.2013C>A | ||
| XM_011518174.1:c.2788C>A | XP_011516476.1:p.Arg930= | |
| XM_011518175.1:c.3178C>A | XP_011516477.1:p.Arg1060= | |
| XM_011518176.1:c.2194C>A | XP_011516478.1:p.Arg732= | |
| XM_011518177.1:c.2188C>A | XP_011516479.1:p.Arg730= | |
| XM_011518178.1:c.1843C>A | XP_011516480.1:p.Arg615= | |
| XM_011518179.1:c.1843C>A | XP_011516481.1:p.Arg615= | |
| XM_011518180.1:c.1444C>A | XP_011516482.1:p.Arg482= | |
| XM_011518176.3:c.2194C>A | XP_011516478.1:p.Arg732= | |
| XM_011518178.2:c.1843C>A | XP_011516480.1:p.Arg615= | |
| XM_017014232.1:c.3166C>A | XP_016869721.1:p.Arg1056= | |
| XM_017014233.1:c.2788C>A | XP_016869722.1:p.Arg930= | |
| XM_017014234.2:c.2188C>A | XP_016869723.1:p.Arg730= | |
| NM_139026.5:c.3085C>A | NP_620595.1:p.Arg1029= | |
| NM_139027.5:c.3178C>A | NP_620596.2:p.Arg1060= | |
| NM_139025.5:c.3178C>A | NP_620594.1:p.Arg1060= | |
| NM_139026.6:c.3085C>A | NP_620595.1:p.Arg1029= | |
| NM_139027.6:c.3178C>A MANE Select | NP_620596.2:p.Arg1060= | |
| NR_024514.3:n.2015C>A |