HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843940T>G , CM000663.2:g.11843940T>G | GRCh38 |
NC_000001.10:g.11903997T>G , CM000663.1:g.11903997T>G | GRCh37 |
NC_000001.9:g.11826584T>G | NCBI36 |
NG_008766.1:g.42791T>G | |
NG_012926.1:g.8844A>C , LRG_751:g.8844A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1608T>G (CLCN6) | ENSP00000496938.1:n.*1608T>G | |
ENST00000446542.5:n.428T>G (NPPA-AS1) | ||
NR_037806.1:n.1126T>G (NPPA-AS1) |