HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843970C>T , CM000663.2:g.11843970C>T | GRCh38 |
NC_000001.10:g.11904027C>T , CM000663.1:g.11904027C>T | GRCh37 |
NC_000001.9:g.11826614C>T | NCBI36 |
NG_008766.1:g.42821C>T | |
NG_012926.1:g.8814G>A , LRG_751:g.8814G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1638C>T (CLCN6) | ENSP00000496938.1:n.*1638C>T | |
ENST00000446542.5:n.458C>T (NPPA-AS1) | ||
NR_037806.1:n.1156C>T (NPPA-AS1) |