Linked Data
ClinVar Variation Id:
234976
ClinVar RCV Id:
RCV000223912
dbSNP Id:
rs876661340
gnomAD v4:
15-34792510-C-T
COSMIC:
COSM960886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792510C>T , CM000677.2:g.34792510C>T | GRCh38 |
| NC_000015.9:g.35084711C>T , CM000677.1:g.35084711C>T | GRCh37 |
| NC_000015.8:g.32872003C>T | NCBI36 |
| NG_007553.1:g.8217G>A , LRG_388:g.8217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.620G>A (ACTC1) | ||
| ENST00000290378.6:c.514G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Ala172Thr | |
| ENST00000647798.1:n.608G>A (ACTC1) | ||
| ENST00000648556.1:n.671G>A (ACTC1) | ||
| ENST00000650163.1:n.594G>A (ACTC1) | ||
| ENST00000290378.4:c.514G>A (ACTC1) | ENSP00000290378.4:p.Ala172Thr | |
| ENST00000557860.1:n.204G>A (ACTC1) | ||
| ENST00000560563.1:n.13G>A (ACTC1) | ||
| NM_005159.4:c.514G>A , LRG_388t1:c.514G>A (ACTC1) | NP_005150.1:p.Ala172Thr | |
| NR_120329.1:n.299+15079C>T (GJD2-DT) | ||
| NM_005159.5:c.514G>A (ACTC1) MANE Select | NP_005150.1:p.Ala172Thr |