Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790329A>C , CM000677.2:g.34790329A>C | GRCh38 |
| NC_000015.9:g.35082530A>C , CM000677.1:g.35082530A>C | GRCh37 |
| NC_000015.8:g.32869822A>C | NCBI36 |
| NG_007553.1:g.10398T>G , LRG_388:g.10398T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2117T>G (ACTC1) | ||
| ENST00000290378.6:c.*83T>G (ACTC1) MANE Select | ENSP00000290378.4:n.*83T>G | |
| ENST00000647798.1:n.1311T>G (ACTC1) | ||
| ENST00000650163.1:n.1297T>G (ACTC1) | ||
| ENST00000290378.4:c.*83T>G (ACTC1) | ENSP00000290378.4:n.*83T>G | |
| NM_005159.4:c.*83T>G , LRG_388t1:c.*83T>G (ACTC1) | NP_005150.1:n.*83T>G | |
| NR_120329.1:n.299+12898A>C (GJD2-DT) | ||
| NM_005159.5:c.*83T>G (ACTC1) MANE Select | NP_005150.1:n.*83T>G |