Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793296A>C , CM000677.2:g.34793296A>C | GRCh38 |
| NC_000015.9:g.35085497A>C , CM000677.1:g.35085497A>C | GRCh37 |
| NC_000015.8:g.32872789A>C | NCBI36 |
| NG_007553.1:g.7431T>G , LRG_388:g.7431T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.509T>G (ACTC1) | ||
| ENST00000290378.6:c.403T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr135Asp | |
| ENST00000647798.1:n.548+2T>G (ACTC1) | ||
| ENST00000648556.1:n.560T>G (ACTC1) | ||
| ENST00000650163.1:n.483T>G (ACTC1) | ||
| ENST00000290378.4:c.403T>G (ACTC1) | ENSP00000290378.4:p.Tyr135Asp | |
| NM_005159.4:c.403T>G , LRG_388t1:c.403T>G (ACTC1) | NP_005150.1:p.Tyr135Asp | |
| NR_120329.1:n.299+15865A>C (GJD2-DT) | ||
| NM_005159.5:c.403T>G (ACTC1) MANE Select | NP_005150.1:p.Tyr135Asp |