Linked Data
ClinVar Variation Id:
18325
ClinVar RCV Id:
RCV001380614
dbSNP Id:
rs121912675
PubMed:
PMID:10330430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791215C>A , CM000677.2:g.34791215C>A | GRCh38 |
| NC_000015.9:g.35083416C>A , CM000677.1:g.35083416C>A | GRCh37 |
| NC_000015.8:g.32870708C>A | NCBI36 |
| NG_007553.1:g.9512G>T , LRG_388:g.9512G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.1789G>T (ACTC1) | ||
| ENST00000290378.6:c.889G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ala297Ser | |
| ENST00000647798.1:n.983G>T (ACTC1) | ||
| ENST00000650163.1:n.969G>T (ACTC1) | ||
| ENST00000290378.4:c.889G>T (ACTC1) | ENSP00000290378.4:p.Ala297Ser | |
| ENST00000557860.1:n.579G>T (ACTC1) | ||
| NM_005159.4:c.889G>T , LRG_388t1:c.889G>T (ACTC1) | NP_005150.1:p.Ala297Ser | |
| NR_120329.1:n.299+13784C>A (GJD2-DT) | ||
| NM_005159.5:c.889G>T (ACTC1) MANE Select | NP_005150.1:p.Ala297Ser |