Linked Data
ClinVar Variation Id:
3074667
ClinVar RCV Id:
RCV004014201
dbSNP Id:
rs751661762
ExAC:
15:35084611 G / C
gnomAD v2:
15-35084611-G-C
gnomAD v4:
15-34792410-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792410G>C , CM000677.2:g.34792410G>C | GRCh38 |
| NC_000015.9:g.35084611G>C , CM000677.1:g.35084611G>C | GRCh37 |
| NC_000015.8:g.32871903G>C | NCBI36 |
| NG_007553.1:g.8317C>G , LRG_388:g.8317C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.720C>G (ACTC1) | ||
| ENST00000290378.6:c.614C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Thr205Ser | |
| ENST00000647798.1:n.708C>G (ACTC1) | ||
| ENST00000648556.1:n.771C>G (ACTC1) | ||
| ENST00000650163.1:n.694C>G (ACTC1) | ||
| ENST00000290378.4:c.614C>G (ACTC1) | ENSP00000290378.4:p.Thr205Ser | |
| ENST00000557860.1:n.304C>G (ACTC1) | ||
| ENST00000560563.1:n.113C>G (ACTC1) | ||
| NM_005159.4:c.614C>G , LRG_388t1:c.614C>G (ACTC1) | NP_005150.1:p.Thr205Ser | |
| NR_120329.1:n.299+14979G>C (GJD2-DT) | ||
| NM_005159.5:c.614C>G (ACTC1) MANE Select | NP_005150.1:p.Thr205Ser |