HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844081C>T , CM000663.2:g.11844081C>T | GRCh38 |
NC_000001.10:g.11904138C>T , CM000663.1:g.11904138C>T | GRCh37 |
NC_000001.9:g.11826725C>T | NCBI36 |
NG_008766.1:g.42932C>T | |
NG_012926.1:g.8703G>A , LRG_751:g.8703G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1741+8C>T (CLCN6) | ENSP00000496938.1:n.*1741+8C>T | |
ENST00000446542.5:n.561+8C>T (NPPA-AS1) | ||
NR_037806.1:n.1259+8C>T (NPPA-AS1) |