Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793427G>T , CM000677.2:g.34793427G>T | GRCh38 |
| NC_000015.9:g.35085628G>T , CM000677.1:g.35085628G>T | GRCh37 |
| NC_000015.8:g.32872920G>T | NCBI36 |
| NG_007553.1:g.7300C>A , LRG_388:g.7300C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.378C>A (ACTC1) | ||
| ENST00000290378.6:c.272C>A (ACTC1) MANE Select | ENSP00000290378.4:p.Thr91Asn | |
| ENST00000647798.1:n.419C>A (ACTC1) | ||
| ENST00000648556.1:n.429C>A (ACTC1) | ||
| ENST00000650163.1:n.352C>A (ACTC1) | ||
| ENST00000290378.4:c.272C>A (ACTC1) | ENSP00000290378.4:p.Thr91Asn | |
| NM_005159.4:c.272C>A , LRG_388t1:c.272C>A (ACTC1) | NP_005150.1:p.Thr91Asn | |
| NR_120329.1:n.299+15996G>T (GJD2-DT) | ||
| NM_005159.5:c.272C>A (ACTC1) MANE Select | NP_005150.1:p.Thr91Asn |