HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844216C>G , CM000663.2:g.11844216C>G | GRCh38 |
NC_000001.10:g.11904273C>G , CM000663.1:g.11904273C>G | GRCh37 |
NC_000001.9:g.11826860C>G | NCBI36 |
NG_008766.1:g.43067C>G | |
NG_012926.1:g.8568G>C , LRG_751:g.8568G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1741+143C>G (CLCN6) | ENSP00000496938.1:n.*1741+143C>G | |
ENST00000446542.5:n.561+143C>G (NPPA-AS1) | ||
NR_037806.1:n.1259+143C>G (NPPA-AS1) |