HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34790116A>C , CM000677.2:g.34790116A>C | GRCh38 |
NC_000015.9:g.35082317A>C , CM000677.1:g.35082317A>C | GRCh37 |
NC_000015.8:g.32869609A>C | NCBI36 |
NG_007553.1:g.10611T>G , LRG_388:g.10611T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.2330T>G (ACTC1) | ||
ENST00000290378.4:c.*296T>G (ACTC1) | ENSP00000290378.4:n.*296T>G | |
NM_005159.4:c.*296T>G , LRG_388t1:c.*296T>G (ACTC1) | NP_005150.1:n.*296T>G | |
NR_120329.1:n.299+12685A>C (GJD2-DT) |