HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792133C= , CM000677.2:g.34792133C= | GRCh38 |
NC_000015.9:g.35084334C= , CM000677.1:g.35084334C= | GRCh37 |
NC_000015.8:g.32871626C= | NCBI36 |
NG_007553.1:g.8594G= , LRG_388:g.8594G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.871G= (ACTC1) | ||
ENST00000290378.6:c.765G= (ACTC1) MANE Select | ENSP00000290378.4:p.Glu255= | |
ENST00000647798.1:n.859G= (ACTC1) | ||
ENST00000650163.1:n.845G= (ACTC1) | ||
ENST00000290378.4:c.765G= (ACTC1) | ENSP00000290378.4:p.Glu255= | |
ENST00000557860.1:n.455G= (ACTC1) | ||
ENST00000560563.1:n.264G= (ACTC1) | ||
NM_005159.4:c.765G= , LRG_388t1:c.765G= (ACTC1) | NP_005150.1:p.Glu255= | |
NR_120329.1:n.299+14702C= (GJD2-DT) | ||
NM_005159.5:c.765G= (ACTC1) MANE Select | NP_005150.1:p.Glu255= |