HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843925T>C , CM000663.2:g.11843925T>C | GRCh38 |
NC_000001.10:g.11903982T>C , CM000663.1:g.11903982T>C | GRCh37 |
NC_000001.9:g.11826569T>C | NCBI36 |
NG_008766.1:g.42776T>C | |
NG_012926.1:g.8859A>G , LRG_751:g.8859A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1593T>C (CLCN6) | ENSP00000496938.1:n.*1593T>C | |
ENST00000446542.5:n.413T>C (NPPA-AS1) | ||
NR_037806.1:n.1111T>C (NPPA-AS1) |