HGVS | Genome Assembly |
---|---|
NC_000005.10:g.155875572G>A , CM000667.2:g.155875572G>A | GRCh38 |
NC_000005.9:g.155302582G>A , CM000667.1:g.155302582G>A | GRCh37 |
NC_000005.8:g.155235160G>A | NCBI36 |
NG_008693.2:g.10229G>A , LRG_205:g.10229G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000517913.5:c.-282+5148G>A | ENSP00000429378.1:n.-282+5148G>A | |
XM_017009723.2:c.-208+5148G>A | XP_016865212.1:n.-208+5148G>A | |
XM_017009724.1:c.-208+146582G>A | XP_016865213.1:n.-208+146582G>A |