Linked Data
ClinVar Variation Id:
1242680
ClinVar RCV Id:
RCV001641484
dbSNP Id:
rs78697034
ExAC:
15:35084818 C / G
gnomAD v2:
15-35084818-C-G
gnomAD v3:
15-34792617-C-G
gnomAD v4:
15-34792617-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792617C>G , CM000677.2:g.34792617C>G | GRCh38 |
| NC_000015.9:g.35084818C>G , CM000677.1:g.35084818C>G | GRCh37 |
| NC_000015.8:g.32872110C>G | NCBI36 |
| NG_007553.1:g.8110G>C , LRG_388:g.8110G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.561-48G>C (ACTC1) | ||
| ENST00000290378.6:c.455-48G>C (ACTC1) MANE Select | ENSP00000290378.4:n.455-48G>C | |
| ENST00000647798.1:n.549-48G>C (ACTC1) | ||
| ENST00000648556.1:n.612-48G>C (ACTC1) | ||
| ENST00000650163.1:n.535-48G>C (ACTC1) | ||
| ENST00000290378.4:c.455-48G>C (ACTC1) | ENSP00000290378.4:n.455-48G>C | |
| ENST00000557860.1:n.145-48G>C (ACTC1) | ||
| NM_005159.4:c.455-48G>C , LRG_388t1:c.455-48G>C (ACTC1) | NP_005150.1:n.455-48G>C | |
| NR_120329.1:n.299+15186C>G (GJD2-DT) | ||
| NM_005159.5:c.455-48G>C (ACTC1) MANE Select | NP_005150.1:n.455-48G>C |