Revel Score:
ENST00000290378 (MANE Select)
0.929
ENST00000544062
0.929
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792443A>T , CM000677.2:g.34792443A>T | GRCh38 |
| NC_000015.9:g.35084644A>T , CM000677.1:g.35084644A>T | GRCh37 |
| NC_000015.8:g.32871936A>T | NCBI36 |
| NG_007553.1:g.8284T>A , LRG_388:g.8284T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.687T>A (ACTC1) | ||
| ENST00000290378.6:c.581T>A (ACTC1) MANE Select | ENSP00000290378.4:p.Ile194Asn | |
| ENST00000647798.1:n.675T>A (ACTC1) | ||
| ENST00000648556.1:n.738T>A (ACTC1) | ||
| ENST00000650163.1:n.661T>A (ACTC1) | ||
| ENST00000290378.4:c.581T>A (ACTC1) | ENSP00000290378.4:p.Ile194Asn | |
| ENST00000557860.1:n.271T>A (ACTC1) | ||
| ENST00000560563.1:n.80T>A (ACTC1) | ||
| NM_005159.4:c.581T>A , LRG_388t1:c.581T>A (ACTC1) | NP_005150.1:p.Ile194Asn | |
| NR_120329.1:n.299+15012A>T (GJD2-DT) | ||
| NM_005159.5:c.581T>A (ACTC1) MANE Select | NP_005150.1:p.Ile194Asn |