HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34789928G= , CM000677.2:g.34789928G= | GRCh38 |
NC_000015.9:g.35082129G= , CM000677.1:g.35082129G= | GRCh37 |
NC_000015.8:g.32869421G= | NCBI36 |
NG_007553.1:g.10799C= , LRG_388:g.10799C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*484C= (ACTC1) | ENSP00000290378.4:n.*484C= | |
NM_005159.4:c.*484C= , LRG_388t1:c.*484C= (ACTC1) | NP_005150.1:n.*484C= | |
NR_120329.1:n.299+12497G= (GJD2-DT) |