HGVS | Genome Assembly |
---|---|
NC_000005.10:g.155924251T>A , CM000667.2:g.155924251T>A | GRCh38 |
NC_000005.9:g.155351261T>A , CM000667.1:g.155351261T>A | GRCh37 |
NC_000005.8:g.155283839T>A | NCBI36 |
NG_008693.2:g.58908T>A , LRG_205:g.58908T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000517913.5:c.-282+53827T>A | ENSP00000429378.1:n.-282+53827T>A | |
XM_017009723.2:c.-208+53827T>A | XP_016865212.1:n.-208+53827T>A | |
XM_017009724.1:c.-208+195261T>A | XP_016865213.1:n.-208+195261T>A |