HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34790165C= , CM000677.2:g.34790165C= | GRCh38 |
NC_000015.9:g.35082366C= , CM000677.1:g.35082366C= | GRCh37 |
NC_000015.8:g.32869658C= | NCBI36 |
NG_007553.1:g.10562G= , LRG_388:g.10562G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.2281G= (ACTC1) | ||
ENST00000290378.4:c.*247G= (ACTC1) | ENSP00000290378.4:n.*247G= | |
NM_005159.4:c.*247G= , LRG_388t1:c.*247G= (ACTC1) | NP_005150.1:n.*247G= | |
NR_120329.1:n.299+12734C= (GJD2-DT) |