HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843944T>A , CM000663.2:g.11843944T>A | GRCh38 |
NC_000001.10:g.11904001T>A , CM000663.1:g.11904001T>A | GRCh37 |
NC_000001.9:g.11826588T>A | NCBI36 |
NG_008766.1:g.42795T>A | |
NG_012926.1:g.8840A>T , LRG_751:g.8840A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1612T>A (CLCN6) | ENSP00000496938.1:n.*1612T>A | |
ENST00000446542.5:n.432T>A (NPPA-AS1) | ||
NR_037806.1:n.1130T>A (NPPA-AS1) |