Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790445T>C , CM000677.2:g.34790445T>C | GRCh38 |
| NC_000015.9:g.35082646T>C , CM000677.1:g.35082646T>C | GRCh37 |
| NC_000015.8:g.32869938T>C | NCBI36 |
| NG_007553.1:g.10282A>G , LRG_388:g.10282A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.2001A>G (ACTC1) | ||
| ENST00000290378.6:c.1101A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Ala367= | |
| ENST00000647798.1:n.1195A>G (ACTC1) | ||
| ENST00000650163.1:n.1181A>G (ACTC1) | ||
| ENST00000290378.4:c.1101A>G (ACTC1) | ENSP00000290378.4:p.Ala367= | |
| NM_005159.4:c.1101A>G , LRG_388t1:c.1101A>G (ACTC1) | NP_005150.1:p.Ala367= | |
| NR_120329.1:n.299+13014T>C (GJD2-DT) | ||
| NM_005159.5:c.1101A>G (ACTC1) MANE Select | NP_005150.1:p.Ala367= |