HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273577C>T , CM000679.2:g.58273577C>T | GRCh38 |
NC_000017.10:g.56350938C>T , CM000679.1:g.56350938C>T | GRCh37 |
NC_000017.9:g.53705937C>T | NCBI36 |
NG_009629.1:g.12359G>A , LRG_84:g.12359G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.791G>A | ||
ENST00000699291.1:c.583G>A | ENSP00000514272.1:n.583G>A | |
ENST00000699292.1:n.498G>A | ||
ENST00000225275.4:c.1458G>A MANE Select | ENSP00000225275.3:p.Val486= | |
ENST00000225275.3:c.1458G>A | ENSP00000225275.3:p.Val486= | |
NM_000250.1:c.1458G>A , LRG_84t1:c.1458G>A | NP_000241.1:p.Val486= | |
XM_011524821.1:c.1644G>A | XP_011523123.1:p.Val548= | |
XM_011524822.1:c.1173G>A | XP_011523124.1:p.Val391= | |
XM_011524823.1:c.*7G>A | XP_011523125.1:n.*7G>A | |
NM_000250.2:c.1458G>A MANE Select | NP_000241.1:p.Val486= |