Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791212T>C , CM000677.2:g.34791212T>C | GRCh38 |
| NC_000015.9:g.35083413T>C , CM000677.1:g.35083413T>C | GRCh37 |
| NC_000015.8:g.32870705T>C | NCBI36 |
| NG_007553.1:g.9515A>G , LRG_388:g.9515A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1792A>G (ACTC1) | ||
| ENST00000290378.6:c.892A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Asn298Asp | |
| ENST00000647798.1:n.986A>G (ACTC1) | ||
| ENST00000650163.1:n.972A>G (ACTC1) | ||
| ENST00000290378.4:c.892A>G (ACTC1) | ENSP00000290378.4:p.Asn298Asp | |
| ENST00000557860.1:n.582A>G (ACTC1) | ||
| NM_005159.4:c.892A>G , LRG_388t1:c.892A>G (ACTC1) | NP_005150.1:p.Asn298Asp | |
| NR_120329.1:n.299+13781T>C (GJD2-DT) | ||
| NM_005159.5:c.892A>G (ACTC1) MANE Select | NP_005150.1:p.Asn298Asp |