HGVS | Genome Assembly |
---|---|
NC_000015.10:g.61148472C>T , CM000677.2:g.61148472C>T | GRCh38 |
NC_000015.9:g.61440671C>T , CM000677.1:g.61440671C>T | GRCh37 |
NC_000015.8:g.59227963C>T | NCBI36 |
NG_029246.1:g.85832G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000335670.11:c.166+80581G>A MANE Select | ENSP00000335087.6:n.166+80581G>A | |
ENST00000335670.10:c.166+80581G>A | ENSP00000335087.6:n.166+80581G>A | |
ENST00000551975.5:c.81+80581G>A | ||
ENST00000557822.5:n.191+80581G>A | ||
ENST00000559145.1:n.173+80581G>A | ||
ENST00000560300.1:n.181+80581G>A | ||
ENST00000561093.1:n.179+80581G>A | ||
NM_134261.2:c.166+80581G>A | NP_599023.1:n.166+80581G>A | |
XM_011521878.1:c.-328+80581G>A | XP_011520180.1:n.-328+80581G>A | |
XM_011521878.2:c.-328+80581G>A | XP_011520180.1:n.-328+80581G>A | |
NM_134261.3:c.166+80581G>A MANE Select | NP_599023.1:n.166+80581G>A |