HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45329237T>A , CM000663.2:g.45329237T>A | GRCh38 |
NC_000001.10:g.45794909T>A , CM000663.1:g.45794909T>A | GRCh37 |
NC_000001.9:g.45567496T>A | NCBI36 |
NG_008189.1:g.16234A>T , LRG_220:g.16234A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529984.5:c.*69A>T | ENSP00000437093.1:n.*69A>T |