Linked Data
ClinVar Variation Id:
18323
dbSNP Id:
rs121912673
gnomAD v2:
15-35083364-C-T
gnomAD v3:
15-34791163-C-T
gnomAD v4:
15-34791163-C-T
COSMIC:
COSM5007317
PubMed:
PMID:9563954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791163C>T , CM000677.2:g.34791163C>T | GRCh38 |
| NC_000015.9:g.35083364C>T , CM000677.1:g.35083364C>T | GRCh37 |
| NC_000015.8:g.32870656C>T | NCBI36 |
| NG_007553.1:g.9564G>A , LRG_388:g.9564G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.1841G>A (ACTC1) | ||
| ENST00000290378.6:c.941G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Arg314His | |
| ENST00000647798.1:n.1035G>A (ACTC1) | ||
| ENST00000650163.1:n.1021G>A (ACTC1) | ||
| ENST00000290378.4:c.941G>A (ACTC1) | ENSP00000290378.4:p.Arg314His | |
| ENST00000557860.1:n.631G>A (ACTC1) | ||
| NM_005159.4:c.941G>A , LRG_388t1:c.941G>A (ACTC1) | NP_005150.1:p.Arg314His | |
| NR_120329.1:n.299+13732C>T (GJD2-DT) | ||
| NM_005159.5:c.941G>A (ACTC1) MANE Select | NP_005150.1:p.Arg314His |