Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791292A>G , CM000677.2:g.34791292A>G | GRCh38 |
| NC_000015.9:g.35083493A>G , CM000677.1:g.35083493A>G | GRCh37 |
| NC_000015.8:g.32870785A>G | NCBI36 |
| NG_007553.1:g.9435T>C , LRG_388:g.9435T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005159.5:c.812T>C (ACTC1) MANE Select | NP_005150.1:p.Met271Thr |
| ENST00000290378.6:c.812T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Met271Thr |
| NM_005159.4:c.812T>C , LRG_388t1:c.812T>C (ACTC1) | NP_005150.1:p.Met271Thr |
| NR_120329.1:n.299+13861A>G (GJD2-DT) | |
| ENST00000290378.4:c.812T>C (ACTC1) | ENSP00000290378.4:p.Met271Thr |
| ENST00000557860.1:n.502T>C (ACTC1) | |
| ENST00000560563.2:n.1712T>C (ACTC1) | |
| ENST00000647798.1:n.906T>C (ACTC1) | |
| ENST00000650163.1:n.892T>C (ACTC1) |