Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793282C>T , CM000677.2:g.34793282C>T | GRCh38 |
| NC_000015.9:g.35085483C>T , CM000677.1:g.35085483C>T | GRCh37 |
| NC_000015.8:g.32872775C>T | NCBI36 |
| NG_007553.1:g.7445G>A , LRG_388:g.7445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.523G>A (ACTC1) | ||
| ENST00000290378.6:c.417G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Gln139= | |
| ENST00000647798.1:n.548+16G>A (ACTC1) | ||
| ENST00000648556.1:n.574G>A (ACTC1) | ||
| ENST00000650163.1:n.497G>A (ACTC1) | ||
| ENST00000290378.4:c.417G>A (ACTC1) | ENSP00000290378.4:p.Gln139= | |
| NM_005159.4:c.417G>A , LRG_388t1:c.417G>A (ACTC1) | NP_005150.1:p.Gln139= | |
| NR_120329.1:n.299+15851C>T (GJD2-DT) | ||
| NM_005159.5:c.417G>A (ACTC1) MANE Select | NP_005150.1:p.Gln139= |