HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11843934G>A , CM000663.2:g.11843934G>A | GRCh38 |
NC_000001.10:g.11903991G>A , CM000663.1:g.11903991G>A | GRCh37 |
NC_000001.9:g.11826578G>A | NCBI36 |
NG_008766.1:g.42785G>A | |
NG_012926.1:g.8850C>T , LRG_751:g.8850C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1602G>A (CLCN6) | ENSP00000496938.1:n.*1602G>A | |
ENST00000446542.5:n.422G>A (NPPA-AS1) | ||
NR_037806.1:n.1120G>A (NPPA-AS1) |