Linked Data
ClinVar Variation Id:
2928750
ClinVar RCV Id:
RCV003789524
dbSNP Id:
rs141322728
gnomAD v2:
15-35085600-G-C
gnomAD v3:
15-34793399-G-C
gnomAD v4:
15-34793399-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793399G>C , CM000677.2:g.34793399G>C | GRCh38 |
| NC_000015.9:g.35085600G>C , CM000677.1:g.35085600G>C | GRCh37 |
| NC_000015.8:g.32872892G>C | NCBI36 |
| NG_007553.1:g.7328C>G , LRG_388:g.7328C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.406C>G (ACTC1) | ||
| ENST00000290378.6:c.300C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Pro100= | |
| ENST00000647798.1:n.447C>G (ACTC1) | ||
| ENST00000648556.1:n.457C>G (ACTC1) | ||
| ENST00000650163.1:n.380C>G (ACTC1) | ||
| ENST00000290378.4:c.300C>G (ACTC1) | ENSP00000290378.4:p.Pro100= | |
| NM_005159.4:c.300C>G , LRG_388t1:c.300C>G (ACTC1) | NP_005150.1:p.Pro100= | |
| NR_120329.1:n.299+15968G>C (GJD2-DT) | ||
| NM_005159.5:c.300C>G (ACTC1) MANE Select | NP_005150.1:p.Pro100= |