Revel Score:
ENST00000290378 (MANE Select)
0.903
ENST00000544062
0.903
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792432G>A , CM000677.2:g.34792432G>A | GRCh38 |
| NC_000015.9:g.35084633G>A , CM000677.1:g.35084633G>A | GRCh37 |
| NC_000015.8:g.32871925G>A | NCBI36 |
| NG_007553.1:g.8295C>T , LRG_388:g.8295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.698C>T (ACTC1) | ||
| ENST00000290378.6:c.592C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Arg198Cys | |
| ENST00000647798.1:n.686C>T (ACTC1) | ||
| ENST00000648556.1:n.749C>T (ACTC1) | ||
| ENST00000650163.1:n.672C>T (ACTC1) | ||
| ENST00000290378.4:c.592C>T (ACTC1) | ENSP00000290378.4:p.Arg198Cys | |
| ENST00000557860.1:n.282C>T (ACTC1) | ||
| ENST00000560563.1:n.91C>T (ACTC1) | ||
| NM_005159.4:c.592C>T , LRG_388t1:c.592C>T (ACTC1) | NP_005150.1:p.Arg198Cys | |
| NR_120329.1:n.299+15001G>A (GJD2-DT) | ||
| NM_005159.5:c.592C>T (ACTC1) MANE Select | NP_005150.1:p.Arg198Cys |