HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348790C>A , CM000685.2:g.101348790C>A | GRCh38 |
NC_000023.10:g.100603778C>A , CM000685.1:g.100603778C>A | GRCh37 |
NC_000023.9:g.100490434C>A | NCBI36 |
NG_009616.1:g.42435G>T , LRG_128:g.42435G>T | |
NG_011734.1:g.5180G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.3:c.-126G>T | ENSP00000361993.3:n.-126G>T | |
NM_004085.3:c.-126G>T | NP_004076.1:n.-126G>T |