Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792529G= , CM000677.2:g.34792529G= | GRCh38 |
| NC_000015.9:g.35084730G= , CM000677.1:g.35084730G= | GRCh37 |
| NC_000015.8:g.32872022G= | NCBI36 |
| NG_007553.1:g.8198C= , LRG_388:g.8198C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.601C= (ACTC1) | ||
| ENST00000290378.6:c.495C= (ACTC1) MANE Select | ENSP00000290378.4:p.Val165= | |
| ENST00000647798.1:n.589C= (ACTC1) | ||
| ENST00000648556.1:n.652C= (ACTC1) | ||
| ENST00000650163.1:n.575C= (ACTC1) | ||
| ENST00000290378.4:c.495C= (ACTC1) | ENSP00000290378.4:p.Val165= | |
| ENST00000557860.1:n.185C= (ACTC1) | ||
| NM_005159.4:c.495C= , LRG_388t1:c.495C= (ACTC1) | NP_005150.1:p.Val165= | |
| NR_120329.1:n.299+15098G= (GJD2-DT) | ||
| NM_005159.5:c.495C= (ACTC1) MANE Select | NP_005150.1:p.Val165= |