Linked Data
ClinVar Variation Id:
1332525
dbSNP Id:
rs1891726942
gnomAD v3:
15-34792578-G-A
gnomAD v4:
15-34792578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792578G>A , CM000677.2:g.34792578G>A | GRCh38 |
| NC_000015.9:g.35084779G>A , CM000677.1:g.35084779G>A | GRCh37 |
| NC_000015.8:g.32872071G>A | NCBI36 |
| NG_007553.1:g.8149C>T , LRG_388:g.8149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.561-9C>T (ACTC1) | ||
| ENST00000290378.6:c.455-9C>T (ACTC1) MANE Select | ENSP00000290378.4:n.455-9C>T | |
| ENST00000647798.1:n.549-9C>T (ACTC1) | ||
| ENST00000648556.1:n.612-9C>T (ACTC1) | ||
| ENST00000650163.1:n.535-9C>T (ACTC1) | ||
| ENST00000290378.4:c.455-9C>T (ACTC1) | ENSP00000290378.4:n.455-9C>T | |
| ENST00000557860.1:n.145-9C>T (ACTC1) | ||
| NM_005159.4:c.455-9C>T , LRG_388t1:c.455-9C>T (ACTC1) | NP_005150.1:n.455-9C>T | |
| NR_120329.1:n.299+15147G>A (GJD2-DT) | ||
| NM_005159.5:c.455-9C>T (ACTC1) MANE Select | NP_005150.1:n.455-9C>T |