HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792240A>C , CM000677.2:g.34792240A>C | GRCh38 |
NC_000015.9:g.35084441A>C , CM000677.1:g.35084441A>C | GRCh37 |
NC_000015.8:g.32871733A>C | NCBI36 |
NG_007553.1:g.8487T>G , LRG_388:g.8487T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.764T>G (ACTC1) | ||
ENST00000290378.6:c.658T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr220Asp | |
ENST00000647798.1:n.752T>G (ACTC1) | ||
ENST00000650163.1:n.738T>G (ACTC1) | ||
ENST00000290378.4:c.658T>G (ACTC1) | ENSP00000290378.4:p.Tyr220Asp | |
ENST00000557860.1:n.348T>G (ACTC1) | ||
ENST00000560563.1:n.157T>G (ACTC1) | ||
NM_005159.4:c.658T>G , LRG_388t1:c.658T>G (ACTC1) | NP_005150.1:p.Tyr220Asp | |
NR_120329.1:n.299+14809A>C (GJD2-DT) | ||
NM_005159.5:c.658T>G (ACTC1) MANE Select | NP_005150.1:p.Tyr220Asp |