HGVS | Genome Assembly |
---|---|
NC_000005.10:g.142143346T>A , CM000667.2:g.142143346T>A | GRCh38 |
NC_000005.9:g.141522911T>A , CM000667.1:g.141522911T>A | GRCh37 |
NC_000005.8:g.141503095T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253814.6:c.563-1225T>A MANE Select | ENSP00000253814.3:n.563-1225T>A | |
ENST00000253814.5:c.563-1225T>A | ENSP00000253814.3:n.563-1225T>A | |
ENST00000503388.1:n.369T>A | ||
NM_030571.3:c.563-1225T>A | NP_085048.1:n.563-1225T>A | |
NM_030571.4:c.563-1225T>A MANE Select | NP_085048.1:n.563-1225T>A |