Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793278C>G , CM000677.2:g.34793278C>G | GRCh38 |
| NC_000015.9:g.35085479C>G , CM000677.1:g.35085479C>G | GRCh37 |
| NC_000015.8:g.32872771C>G | NCBI36 |
| NG_007553.1:g.7449G>C , LRG_388:g.7449G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.527G>C (ACTC1) | ||
| ENST00000290378.6:c.421G>C (ACTC1) MANE Select | ENSP00000290378.4:p.Val141Leu | |
| ENST00000647798.1:n.548+20G>C (ACTC1) | ||
| ENST00000648556.1:n.578G>C (ACTC1) | ||
| ENST00000650163.1:n.501G>C (ACTC1) | ||
| ENST00000290378.4:c.421G>C (ACTC1) | ENSP00000290378.4:p.Val141Leu | |
| NM_005159.4:c.421G>C , LRG_388t1:c.421G>C (ACTC1) | NP_005150.1:p.Val141Leu | |
| NR_120329.1:n.299+15847C>G (GJD2-DT) | ||
| NM_005159.5:c.421G>C (ACTC1) MANE Select | NP_005150.1:p.Val141Leu |