HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843571C>A , CM000663.2:g.11843571C>A | GRCh38 |
NC_000001.10:g.11903628C>A , CM000663.1:g.11903628C>A | GRCh37 |
NC_000001.9:g.11826215C>A | NCBI36 |
NG_008766.1:g.42422C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1402-163C>A (CLCN6) | ENSP00000496938.1:n.*1402-163C>A | |
ENST00000446542.5:n.192-133C>A (NPPA-AS1) | ||
NR_037806.1:n.890-133C>A (NPPA-AS1) |