HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843753G>A , CM000663.2:g.11843753G>A | GRCh38 |
NC_000001.10:g.11903810G>A , CM000663.1:g.11903810G>A | GRCh37 |
NC_000001.9:g.11826397G>A | NCBI36 |
NG_008766.1:g.42604G>A | |
NG_012926.1:g.9031C>T , LRG_751:g.9031C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1421G>A (CLCN6) | ENSP00000496938.1:n.*1421G>A | |
ENST00000446542.5:n.241G>A (NPPA-AS1) | ||
NR_037806.1:n.939G>A (NPPA-AS1) |