Linked Data
dbSNP Id:
rs757146524
ExAC:
15:35084252 A / T
gnomAD v2:
15-35084252-A-T
gnomAD v4:
15-34792051-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792051A>T , CM000677.2:g.34792051A>T | GRCh38 |
| NC_000015.9:g.35084252A>T , CM000677.1:g.35084252A>T | GRCh37 |
| NC_000015.8:g.32871544A>T | NCBI36 |
| NG_007553.1:g.8676T>A , LRG_388:g.8676T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.953T>A (ACTC1) | ||
| ENST00000290378.6:c.808+39T>A (ACTC1) MANE Select | ENSP00000290378.4:n.808+39T>A | |
| ENST00000647798.1:n.902+39T>A (ACTC1) | ||
| ENST00000650163.1:n.888+39T>A (ACTC1) | ||
| ENST00000290378.4:c.808+39T>A (ACTC1) | ENSP00000290378.4:n.808+39T>A | |
| ENST00000557860.1:n.498+39T>A (ACTC1) | ||
| ENST00000560563.1:n.346T>A (ACTC1) | ||
| NM_005159.4:c.808+39T>A , LRG_388t1:c.808+39T>A (ACTC1) | NP_005150.1:n.808+39T>A | |
| NR_120329.1:n.299+14620A>T (GJD2-DT) | ||
| NM_005159.5:c.808+39T>A (ACTC1) MANE Select | NP_005150.1:n.808+39T>A |