HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843937C= , CM000663.2:g.11843937C= | GRCh38 |
NC_000001.10:g.11903994C= , CM000663.1:g.11903994C= | GRCh37 |
NC_000001.9:g.11826581C= | NCBI36 |
NG_008766.1:g.42788C= | |
NG_012926.1:g.8847G= , LRG_751:g.8847G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*1605C= (CLCN6) | ENSP00000496938.1:n.*1605C= | |
ENST00000446542.5:n.425C= (NPPA-AS1) | ||
NR_037806.1:n.1123C= (NPPA-AS1) |