Linked Data
ClinVar Variation Id:
180774
dbSNP Id:
rs730880407
ExAC:
15:35082635 A / G
gnomAD v2:
15-35082635-A-G
gnomAD v4:
15-34790434-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790434A>G , CM000677.2:g.34790434A>G | GRCh38 |
| NC_000015.9:g.35082635A>G , CM000677.1:g.35082635A>G | GRCh37 |
| NC_000015.8:g.32869927A>G | NCBI36 |
| NG_007553.1:g.10293T>C , LRG_388:g.10293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.2012T>C (ACTC1) | ||
| ENST00000290378.6:c.1112T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Ile371Thr | |
| ENST00000647798.1:n.1206T>C (ACTC1) | ||
| ENST00000650163.1:n.1192T>C (ACTC1) | ||
| ENST00000290378.4:c.1112T>C (ACTC1) | ENSP00000290378.4:p.Ile371Thr | |
| NM_005159.4:c.1112T>C , LRG_388t1:c.1112T>C (ACTC1) | NP_005150.1:p.Ile371Thr | |
| NR_120329.1:n.299+13003A>G (GJD2-DT) | ||
| NM_005159.5:c.1112T>C (ACTC1) MANE Select | NP_005150.1:p.Ile371Thr |