Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792140C>G , CM000677.2:g.34792140C>G | GRCh38 |
| NC_000015.9:g.35084341C>G , CM000677.1:g.35084341C>G | GRCh37 |
| NC_000015.8:g.32871633C>G | NCBI36 |
| NG_007553.1:g.8587G>C , LRG_388:g.8587G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.864G>C (ACTC1) | ||
| ENST00000290378.6:c.758G>C (ACTC1) MANE Select | ENSP00000290378.4:p.Gly253Ala | |
| ENST00000647798.1:n.852G>C (ACTC1) | ||
| ENST00000650163.1:n.838G>C (ACTC1) | ||
| ENST00000290378.4:c.758G>C (ACTC1) | ENSP00000290378.4:p.Gly253Ala | |
| ENST00000557860.1:n.448G>C (ACTC1) | ||
| ENST00000560563.1:n.257G>C (ACTC1) | ||
| NM_005159.4:c.758G>C , LRG_388t1:c.758G>C (ACTC1) | NP_005150.1:p.Gly253Ala | |
| NR_120329.1:n.299+14709C>G (GJD2-DT) | ||
| NM_005159.5:c.758G>C (ACTC1) MANE Select | NP_005150.1:p.Gly253Ala |