Linked Data
ClinVar Variation Id:
2625260
ClinVar RCV Id:
RCV003380019
MyVariant Identifiers:
chr15:g.35084310G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792109G>C , CM000677.2:g.34792109G>C | GRCh38 |
| NC_000015.9:g.35084310G>C , CM000677.1:g.35084310G>C | GRCh37 |
| NC_000015.8:g.32871602G>C | NCBI36 |
| NG_007553.1:g.8618C>G , LRG_388:g.8618C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.895C>G (ACTC1) | ||
| ENST00000290378.6:c.789C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Leu263= | |
| ENST00000647798.1:n.883C>G (ACTC1) | ||
| ENST00000650163.1:n.869C>G (ACTC1) | ||
| ENST00000290378.4:c.789C>G (ACTC1) | ENSP00000290378.4:p.Leu263= | |
| ENST00000557860.1:n.479C>G (ACTC1) | ||
| ENST00000560563.1:n.288C>G (ACTC1) | ||
| NM_005159.4:c.789C>G , LRG_388t1:c.789C>G (ACTC1) | NP_005150.1:p.Leu263= | |
| NR_120329.1:n.299+14678G>C (GJD2-DT) | ||
| NM_005159.5:c.789C>G (ACTC1) MANE Select | NP_005150.1:p.Leu263= |