HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29495681A>G , CM000679.2:g.29495681A>G | GRCh38 |
NC_000017.10:g.27822699A>G , CM000679.1:g.27822699A>G | GRCh37 |
NC_000017.9:g.24846825A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.953A>G MANE Select | ENSP00000261716.3:p.Gln318Arg | |
ENST00000261716.7:c.953A>G | ENSP00000261716.3:p.Gln318Arg | |
ENST00000536202.1:c.953A>G | ENSP00000438819.1:p.Gln318Arg | |
ENST00000577583.1:n.801A>G | ||
NM_020791.2:c.953A>G | NP_065842.1:p.Gln318Arg | |
NM_025142.1:c.953A>G | NP_079418.1:p.Gln318Arg | |
XM_011525060.1:c.953A>G | XP_011523362.1:p.Gln318Arg | |
XM_011525060.2:c.953A>G | XP_011523362.1:p.Gln318Arg | |
NM_020791.4:c.953A>G MANE Select | NP_065842.1:p.Gln318Arg |