HGVS | Genome Assembly |
---|---|
NC_000010.11:g.25501863G>A , CM000672.2:g.25501863G>A | GRCh38 |
NC_000010.10:g.25790792G>A , CM000672.1:g.25790792G>A | GRCh37 |
NC_000010.9:g.25830798G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376351.4:c.1404+35144G>A MANE Select | ENSP00000365529.3:n.1404+35144G>A | |
ENST00000650135.1:c.1167+35144G>A | ENSP00000498176.1:n.1167+35144G>A | |
ENST00000376351.3:c.1404+35144G>A | ENSP00000365529.3:n.1404+35144G>A | |
NM_020752.2:c.1404+35144G>A | NP_065803.2:n.1404+35144G>A | |
XR_930511.1:n.2088+35144G>A | ||
XR_930512.1:n.2088+35144G>A | ||
XM_017016452.2:c.-157+35144G>A | XP_016871941.1:n.-157+35144G>A | |
XR_930512.3:n.2088+35144G>A | ||
NM_020752.3:c.1404+35144G>A MANE Select | NP_065803.2:n.1404+35144G>A |