HGVS | Genome Assembly |
---|---|
NC_000017.11:g.10127773C>T , CM000679.2:g.10127773C>T | GRCh38 |
NC_000017.10:g.10031090C>T , CM000679.1:g.10031090C>T | GRCh37 |
NC_000017.9:g.9971815C>T | NCBI36 |
NG_029502.1:g.75779G>A | |
NG_029502.2:g.75779G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432992.7:c.183+70435G>A MANE Select | ENSP00000407552.2:n.183+70435G>A | |
ENST00000432992.6:c.183+70435G>A | ENSP00000407552.2:n.183+70435G>A | |
NM_201433.1:c.183+70435G>A | NP_958839.1:n.183+70435G>A | |
NM_201433.2:c.183+70435G>A MANE Select | NP_958839.1:n.183+70435G>A |