HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843972G>T , CM000663.2:g.11843972G>T | GRCh38 |
NC_000001.10:g.11904029G>T , CM000663.1:g.11904029G>T | GRCh37 |
NC_000001.9:g.11826616G>T | NCBI36 |
NG_008766.1:g.42823G>T | |
NG_012926.1:g.8812C>A , LRG_751:g.8812C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1640G>T (CLCN6) | ENSP00000496938.1:n.*1640G>T | |
ENST00000446542.5:n.460G>T (NPPA-AS1) | ||
NR_037806.1:n.1158G>T (NPPA-AS1) |