HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34788934T>C , CM000677.2:g.34788934T>C | GRCh38 |
NC_000015.9:g.35081135T>C , CM000677.1:g.35081135T>C | GRCh37 |
NC_000015.8:g.32868427T>C | NCBI36 |
NG_007553.1:g.11793A>G , LRG_388:g.11793A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*1478A>G (ACTC1) | ENSP00000290378.4:n.*1478A>G | |
NM_005159.4:c.*1478A>G , LRG_388t1:c.*1478A>G (ACTC1) | NP_005150.1:n.*1478A>G | |
NR_120329.1:n.299+11503T>C (GJD2-DT) |