Linked Data
ClinVar Variation Id:
2774971
ClinVar RCV Id:
RCV003533579
MyVariant Identifiers:
chr15:g.35085642C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793441C>T , CM000677.2:g.34793441C>T | GRCh38 |
| NC_000015.9:g.35085642C>T , CM000677.1:g.35085642C>T | GRCh37 |
| NC_000015.8:g.32872934C>T | NCBI36 |
| NG_007553.1:g.7286G>A , LRG_388:g.7286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.364G>A (ACTC1) | ||
| ENST00000290378.6:c.258G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Lys86= | |
| ENST00000647798.1:n.405G>A (ACTC1) | ||
| ENST00000648556.1:n.415G>A (ACTC1) | ||
| ENST00000650163.1:n.338G>A (ACTC1) | ||
| ENST00000290378.4:c.258G>A (ACTC1) | ENSP00000290378.4:p.Lys86= | |
| NM_005159.4:c.258G>A , LRG_388t1:c.258G>A (ACTC1) | NP_005150.1:p.Lys86= | |
| NR_120329.1:n.299+16010C>T (GJD2-DT) | ||
| NM_005159.5:c.258G>A (ACTC1) MANE Select | NP_005150.1:p.Lys86= |