HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792198A= , CM000677.2:g.34792198A= | GRCh38 |
NC_000015.9:g.35084399A= , CM000677.1:g.35084399A= | GRCh37 |
NC_000015.8:g.32871691A= | NCBI36 |
NG_007553.1:g.8529T= , LRG_388:g.8529T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.806T= (ACTC1) | ||
ENST00000290378.6:c.700T= (ACTC1) MANE Select | ENSP00000290378.4:p.Ser234= | |
ENST00000647798.1:n.794T= (ACTC1) | ||
ENST00000650163.1:n.780T= (ACTC1) | ||
ENST00000290378.4:c.700T= (ACTC1) | ENSP00000290378.4:p.Ser234= | |
ENST00000557860.1:n.390T= (ACTC1) | ||
ENST00000560563.1:n.199T= (ACTC1) | ||
NM_005159.4:c.700T= , LRG_388t1:c.700T= (ACTC1) | NP_005150.1:p.Ser234= | |
NR_120329.1:n.299+14767A= (GJD2-DT) | ||
NM_005159.5:c.700T= (ACTC1) MANE Select | NP_005150.1:p.Ser234= |