Linked Data
ClinVar Variation Id:
3075652
ClinVar RCV Id:
RCV004017170
dbSNP Id:
rs1595760308
MyVariant Identifiers:
chr15:g.35083489T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791288T>C , CM000677.2:g.34791288T>C | GRCh38 |
| NC_000015.9:g.35083489T>C , CM000677.1:g.35083489T>C | GRCh37 |
| NC_000015.8:g.32870781T>C | NCBI36 |
| NG_007553.1:g.9439A>G , LRG_388:g.9439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1716A>G (ACTC1) | ||
| ENST00000290378.6:c.816A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Glu272= | |
| ENST00000647798.1:n.910A>G (ACTC1) | ||
| ENST00000650163.1:n.896A>G (ACTC1) | ||
| ENST00000290378.4:c.816A>G (ACTC1) | ENSP00000290378.4:p.Glu272= | |
| ENST00000557860.1:n.506A>G (ACTC1) | ||
| NM_005159.4:c.816A>G , LRG_388t1:c.816A>G (ACTC1) | NP_005150.1:p.Glu272= | |
| NR_120329.1:n.299+13857T>C (GJD2-DT) | ||
| NM_005159.5:c.816A>G (ACTC1) MANE Select | NP_005150.1:p.Glu272= |