HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844028A>G , CM000663.2:g.11844028A>G | GRCh38 |
NC_000001.10:g.11904085A>G , CM000663.1:g.11904085A>G | GRCh37 |
NC_000001.9:g.11826672A>G | NCBI36 |
NG_008766.1:g.42879A>G | |
NG_012926.1:g.8756T>C , LRG_751:g.8756T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1696A>G (CLCN6) | ENSP00000496938.1:n.*1696A>G | |
ENST00000446542.5:n.516A>G (NPPA-AS1) | ||
NR_037806.1:n.1214A>G (NPPA-AS1) |