HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348780C>T , CM000685.2:g.101348780C>T | GRCh38 |
NC_000023.10:g.100603768C>T , CM000685.1:g.100603768C>T | GRCh37 |
NC_000023.9:g.100490424C>T | NCBI36 |
NG_009616.1:g.42445G>A , LRG_128:g.42445G>A | |
NG_011734.1:g.5190G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.3:c.-116G>A | ENSP00000361993.3:n.-116G>A | |
NM_004085.3:c.-116G>A | NP_004076.1:n.-116G>A |