Linked Data
ClinVar Variation Id:
18327
ClinVar RCV Id:
RCV000019992
dbSNP Id:
rs121912677
PubMed:
PMID:17947298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793326T>C , CM000677.2:g.34793326T>C | GRCh38 |
| NC_000015.9:g.35085527T>C , CM000677.1:g.35085527T>C | GRCh37 |
| NC_000015.8:g.32872819T>C | NCBI36 |
| NG_007553.1:g.7401A>G , LRG_388:g.7401A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.479A>G (ACTC1) | ||
| ENST00000290378.6:c.373A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Met125Val | |
| ENST00000647798.1:n.520A>G (ACTC1) | ||
| ENST00000648556.1:n.530A>G (ACTC1) | ||
| ENST00000650163.1:n.453A>G (ACTC1) | ||
| ENST00000290378.4:c.373A>G (ACTC1) | ENSP00000290378.4:p.Met125Val | |
| NM_005159.4:c.373A>G , LRG_388t1:c.373A>G (ACTC1) | NP_005150.1:p.Met125Val | |
| NR_120329.1:n.299+15895T>C (GJD2-DT) | ||
| NM_005159.5:c.373A>G (ACTC1) MANE Select | NP_005150.1:p.Met125Val |