HGVS | Genome Assembly |
---|---|
NC_000015.10:g.81185158A>G , CM000677.2:g.81185158A>G | GRCh38 |
NC_000015.9:g.81477499A>G , CM000677.1:g.81477499A>G | GRCh37 |
NC_000015.8:g.79264554A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000302987.10:c.40+2262A>G | ENSP00000302935.5:n.40+2262A>G | |
ENST00000302987.9:c.40+2262A>G | ENSP00000302935.5:n.40+2262A>G | |
ENST00000360547.9:c.-153+2262A>G | ENSP00000456972.1:n.-153+2262A>G | |
ENST00000560241.5:c.-102+2262A>G | ENSP00000452738.1:n.-102+2262A>G | |
XM_005254342.2:c.40+2262A>G | XP_005254399.1:n.40+2262A>G |