HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792172A= , CM000677.2:g.34792172A= | GRCh38 |
NC_000015.9:g.35084373A= , CM000677.1:g.35084373A= | GRCh37 |
NC_000015.8:g.32871665A= | NCBI36 |
NG_007553.1:g.8555T= , LRG_388:g.8555T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.832T= (ACTC1) | ||
ENST00000290378.6:c.726T= (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr242= | |
ENST00000647798.1:n.820T= (ACTC1) | ||
ENST00000650163.1:n.806T= (ACTC1) | ||
ENST00000290378.4:c.726T= (ACTC1) | ENSP00000290378.4:p.Tyr242= | |
ENST00000557860.1:n.416T= (ACTC1) | ||
ENST00000560563.1:n.225T= (ACTC1) | ||
NM_005159.4:c.726T= , LRG_388t1:c.726T= (ACTC1) | NP_005150.1:p.Tyr242= | |
NR_120329.1:n.299+14741A= (GJD2-DT) | ||
NM_005159.5:c.726T= (ACTC1) MANE Select | NP_005150.1:p.Tyr242= |