HGVS | Genome Assembly |
---|---|
NC_000005.10:g.142143345A>G , CM000667.2:g.142143345A>G | GRCh38 |
NC_000005.9:g.141522910A>G , CM000667.1:g.141522910A>G | GRCh37 |
NC_000005.8:g.141503094A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253814.6:c.563-1226A>G MANE Select | ENSP00000253814.3:n.563-1226A>G | |
ENST00000253814.5:c.563-1226A>G | ENSP00000253814.3:n.563-1226A>G | |
ENST00000503388.1:n.368A>G | ||
NM_030571.3:c.563-1226A>G | NP_085048.1:n.563-1226A>G | |
NM_030571.4:c.563-1226A>G MANE Select | NP_085048.1:n.563-1226A>G |