HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844024C>A , CM000663.2:g.11844024C>A | GRCh38 |
NC_000001.10:g.11904081C>A , CM000663.1:g.11904081C>A | GRCh37 |
NC_000001.9:g.11826668C>A | NCBI36 |
NG_008766.1:g.42875C>A | |
NG_012926.1:g.8760G>T , LRG_751:g.8760G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1692C>A (CLCN6) | ENSP00000496938.1:n.*1692C>A | |
ENST00000446542.5:n.512C>A (NPPA-AS1) | ||
NR_037806.1:n.1210C>A (NPPA-AS1) |