Linked Data
ClinVar Variation Id:
1588290
ClinVar RCV Id:
RCV002095992
dbSNP Id:
rs746508669
ExAC:
15:35084774 C / T
gnomAD v2:
15-35084774-C-T
gnomAD v4:
15-34792573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792573C>T , CM000677.2:g.34792573C>T | GRCh38 |
| NC_000015.9:g.35084774C>T , CM000677.1:g.35084774C>T | GRCh37 |
| NC_000015.8:g.32872066C>T | NCBI36 |
| NG_007553.1:g.8154G>A , LRG_388:g.8154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.561-4G>A (ACTC1) | ||
| ENST00000290378.6:c.455-4G>A (ACTC1) MANE Select | ENSP00000290378.4:n.455-4G>A | |
| ENST00000647798.1:n.549-4G>A (ACTC1) | ||
| ENST00000648556.1:n.612-4G>A (ACTC1) | ||
| ENST00000650163.1:n.535-4G>A (ACTC1) | ||
| ENST00000290378.4:c.455-4G>A (ACTC1) | ENSP00000290378.4:n.455-4G>A | |
| ENST00000557860.1:n.145-4G>A (ACTC1) | ||
| NM_005159.4:c.455-4G>A , LRG_388t1:c.455-4G>A (ACTC1) | NP_005150.1:n.455-4G>A | |
| NR_120329.1:n.299+15142C>T (GJD2-DT) | ||
| NM_005159.5:c.455-4G>A (ACTC1) MANE Select | NP_005150.1:n.455-4G>A |