HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11844087G>A , CM000663.2:g.11844087G>A | GRCh38 |
NC_000001.10:g.11904144G>A , CM000663.1:g.11904144G>A | GRCh37 |
NC_000001.9:g.11826731G>A | NCBI36 |
NG_008766.1:g.42938G>A | |
NG_012926.1:g.8697C>T , LRG_751:g.8697C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1741+14G>A (CLCN6) | ENSP00000496938.1:n.*1741+14G>A | |
ENST00000446542.5:n.561+14G>A (NPPA-AS1) | ||
NR_037806.1:n.1259+14G>A (NPPA-AS1) |