HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154172C>T , CM000681.2:g.55154172C>T | GRCh38 |
NC_000019.9:g.55665540C>T , CM000681.1:g.55665540C>T | GRCh37 |
NC_000019.8:g.60357352C>T | NCBI36 |
NG_007866.2:g.8561G>A , LRG_432:g.8561G>A | |
NG_011829.2:g.67G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.407G>A MANE Select | ENSP00000341838.5:p.Arg136Gln | |
ENST00000665070.1:c.440G>A | ENSP00000499482.1:p.Arg147Gln | |
ENST00000344887.9:c.407G>A | ENSP00000341838.5:p.Arg136Gln | |
ENST00000585806.5:n.406G>A | ||
ENST00000586669.5:n.415G>A | ||
ENST00000588882.1:c.332G>A | ENSP00000466729.1:p.Arg111Gln | |
ENST00000589864.1:n.235G>A | ||
NM_000363.4:c.407G>A , LRG_432t1:c.407G>A | NP_000354.4:p.Arg136Gln | |
NM_000363.5:c.407G>A MANE Select | NP_000354.4:p.Arg136Gln |