Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792191G>A , CM000677.2:g.34792191G>A | GRCh38 |
| NC_000015.9:g.35084392G>A , CM000677.1:g.35084392G>A | GRCh37 |
| NC_000015.8:g.32871684G>A | NCBI36 |
| NG_007553.1:g.8536C>T , LRG_388:g.8536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.813C>T (ACTC1) | ||
| ENST00000290378.6:c.707C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ser236Phe | |
| ENST00000647798.1:n.801C>T (ACTC1) | ||
| ENST00000650163.1:n.787C>T (ACTC1) | ||
| ENST00000290378.4:c.707C>T (ACTC1) | ENSP00000290378.4:p.Ser236Phe | |
| ENST00000557860.1:n.397C>T (ACTC1) | ||
| ENST00000560563.1:n.206C>T (ACTC1) | ||
| NM_005159.4:c.707C>T , LRG_388t1:c.707C>T (ACTC1) | NP_005150.1:p.Ser236Phe | |
| NR_120329.1:n.299+14760G>A (GJD2-DT) | ||
| NM_005159.5:c.707C>T (ACTC1) MANE Select | NP_005150.1:p.Ser236Phe |