HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844029G>T , CM000663.2:g.11844029G>T | GRCh38 |
NC_000001.10:g.11904086G>T , CM000663.1:g.11904086G>T | GRCh37 |
NC_000001.9:g.11826673G>T | NCBI36 |
NG_008766.1:g.42880G>T | |
NG_012926.1:g.8755C>A , LRG_751:g.8755C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1697G>T (CLCN6) | ENSP00000496938.1:n.*1697G>T | |
ENST00000446542.5:n.517G>T (NPPA-AS1) | ||
NR_037806.1:n.1215G>T (NPPA-AS1) |