Linked Data
dbSNP Id:
rs769780832
ExAC:
15:35082583 A / C
gnomAD v2:
15-35082583-A-C
gnomAD v4:
15-34790382-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790382A>C , CM000677.2:g.34790382A>C | GRCh38 |
| NC_000015.9:g.35082583A>C , CM000677.1:g.35082583A>C | GRCh37 |
| NC_000015.8:g.32869875A>C | NCBI36 |
| NG_007553.1:g.10345T>G , LRG_388:g.10345T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2064T>G (ACTC1) | ||
| ENST00000290378.6:c.*30T>G (ACTC1) MANE Select | ENSP00000290378.4:n.*30T>G | |
| ENST00000647798.1:n.1258T>G (ACTC1) | ||
| ENST00000650163.1:n.1244T>G (ACTC1) | ||
| ENST00000290378.4:c.*30T>G (ACTC1) | ENSP00000290378.4:n.*30T>G | |
| NM_005159.4:c.*30T>G , LRG_388t1:c.*30T>G (ACTC1) | NP_005150.1:n.*30T>G | |
| NR_120329.1:n.299+12951A>C (GJD2-DT) | ||
| NM_005159.5:c.*30T>G (ACTC1) MANE Select | NP_005150.1:n.*30T>G |