HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34789893A>G , CM000677.2:g.34789893A>G | GRCh38 |
NC_000015.9:g.35082094A>G , CM000677.1:g.35082094A>G | GRCh37 |
NC_000015.8:g.32869386A>G | NCBI36 |
NG_007553.1:g.10834T>C , LRG_388:g.10834T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*519T>C (ACTC1) | ENSP00000290378.4:n.*519T>C | |
NM_005159.4:c.*519T>C , LRG_388t1:c.*519T>C (ACTC1) | NP_005150.1:n.*519T>C | |
NR_120329.1:n.299+12462A>G (GJD2-DT) |