Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791118A>G , CM000677.2:g.34791118A>G | GRCh38 |
| NC_000015.9:g.35083319A>G , CM000677.1:g.35083319A>G | GRCh37 |
| NC_000015.8:g.32870611A>G | NCBI36 |
| NG_007553.1:g.9609T>C , LRG_388:g.9609T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.1886T>C (ACTC1) | ||
| ENST00000290378.6:c.986T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Ile329Thr | |
| ENST00000647798.1:n.1080T>C (ACTC1) | ||
| ENST00000650163.1:n.1066T>C (ACTC1) | ||
| ENST00000290378.4:c.986T>C (ACTC1) | ENSP00000290378.4:p.Ile329Thr | |
| NM_005159.4:c.986T>C , LRG_388t1:c.986T>C (ACTC1) | NP_005150.1:p.Ile329Thr | |
| NR_120329.1:n.299+13687A>G (GJD2-DT) | ||
| NM_005159.5:c.986T>C (ACTC1) MANE Select | NP_005150.1:p.Ile329Thr |