Linked Data
dbSNP Id:
rs1179943060
gnomAD v2:
15-35084333-G-A
gnomAD v4:
15-34792132-G-A
COSMIC:
COSM3690364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792132G>A , CM000677.2:g.34792132G>A | GRCh38 |
| NC_000015.9:g.35084333G>A , CM000677.1:g.35084333G>A | GRCh37 |
| NC_000015.8:g.32871625G>A | NCBI36 |
| NG_007553.1:g.8595C>T , LRG_388:g.8595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.872C>T (ACTC1) | ||
| ENST00000290378.6:c.766C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Arg256Cys | |
| ENST00000647798.1:n.860C>T (ACTC1) | ||
| ENST00000650163.1:n.846C>T (ACTC1) | ||
| ENST00000290378.4:c.766C>T (ACTC1) | ENSP00000290378.4:p.Arg256Cys | |
| ENST00000557860.1:n.456C>T (ACTC1) | ||
| ENST00000560563.1:n.265C>T (ACTC1) | ||
| NM_005159.4:c.766C>T , LRG_388t1:c.766C>T (ACTC1) | NP_005150.1:p.Arg256Cys | |
| NR_120329.1:n.299+14701G>A (GJD2-DT) | ||
| NM_005159.5:c.766C>T (ACTC1) MANE Select | NP_005150.1:p.Arg256Cys |