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