HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34789958A>C , CM000677.2:g.34789958A>C | GRCh38 |
NC_000015.9:g.35082159A>C , CM000677.1:g.35082159A>C | GRCh37 |
NC_000015.8:g.32869451A>C | NCBI36 |
NG_007553.1:g.10769T>G , LRG_388:g.10769T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*454T>G (ACTC1) | ENSP00000290378.4:n.*454T>G | |
NM_005159.4:c.*454T>G , LRG_388t1:c.*454T>G (ACTC1) | NP_005150.1:n.*454T>G | |
NR_120329.1:n.299+12527A>C (GJD2-DT) |