HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917596G>A , CM000685.2:g.29917596G>A | GRCh38 |
NC_000023.10:g.29935713G>A , CM000685.1:g.29935713G>A | GRCh37 |
NC_000023.9:g.29845634G>A | NCBI36 |
NG_008292.1:g.1335033G>A | |
NG_008292.2:g.1335033G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.911G>A MANE Select | ENSP00000368278.1:p.Arg304Lys | |
ENST00000302196.5:c.134G>A | ENSP00000305200.5:p.Arg45Lys | |
ENST00000378993.5:c.911G>A | ENSP00000368278.1:p.Arg304Lys | |
NM_014271.3:c.911G>A | NP_055086.1:p.Arg304Lys | |
XM_005274441.1:c.911G>A | XP_005274498.1:p.Arg304Lys | |
XM_011545445.1:c.911G>A | XP_011543747.1:p.Arg304Lys | |
XM_017029240.1:c.911G>A | XP_016884729.1:p.Arg304Lys | |
XM_017029241.1:c.533G>A | XP_016884730.1:p.Arg178Lys | |
NM_014271.4:c.911G>A MANE Select | NP_055086.1:p.Arg304Lys |