HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844050C>T , CM000663.2:g.11844050C>T | GRCh38 |
NC_000001.10:g.11904107C>T , CM000663.1:g.11904107C>T | GRCh37 |
NC_000001.9:g.11826694C>T | NCBI36 |
NG_008766.1:g.42901C>T | |
NG_012926.1:g.8734G>A , LRG_751:g.8734G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1718C>T (CLCN6) | ENSP00000496938.1:n.*1718C>T | |
ENST00000446542.5:n.538C>T (NPPA-AS1) | ||
NR_037806.1:n.1236C>T (NPPA-AS1) |