Linked Data
ClinVar Variation Id:
402337
ClinVar RCV Id:
RCV000455654
dbSNP Id:
rs1060499837
COSMIC:
COSM960882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792252C>A , CM000677.2:g.34792252C>A | GRCh38 |
| NC_000015.9:g.35084453C>A , CM000677.1:g.35084453C>A | GRCh37 |
| NC_000015.8:g.32871745C>A | NCBI36 |
| NG_007553.1:g.8475G>T , LRG_388:g.8475G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.752G>T (ACTC1) | ||
| ENST00000290378.6:c.646G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Glu216Ter | |
| ENST00000647798.1:n.740G>T (ACTC1) | ||
| ENST00000648556.1:n.803G>T (ACTC1) | ||
| ENST00000650163.1:n.726G>T (ACTC1) | ||
| ENST00000290378.4:c.646G>T (ACTC1) | ENSP00000290378.4:p.Glu216Ter | |
| ENST00000557860.1:n.336G>T (ACTC1) | ||
| ENST00000560563.1:n.145G>T (ACTC1) | ||
| NM_005159.4:c.646G>T , LRG_388t1:c.646G>T (ACTC1) | NP_005150.1:p.Glu216Ter | |
| NR_120329.1:n.299+14821C>A (GJD2-DT) | ||
| NM_005159.5:c.646G>T (ACTC1) MANE Select | NP_005150.1:p.Glu216Ter |