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