HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812927A>G , CM000664.2:g.218812927A>G | GRCh38 |
NC_000002.11:g.219677650A>G , CM000664.1:g.219677650A>G | GRCh37 |
NC_000002.10:g.219385894A>G | NCBI36 |
NG_007959.1:g.36179A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.848A>G MANE Select | ENSP00000258415.4:p.Lys283Arg | |
ENST00000258415.8:c.848A>G | ENSP00000258415.4:p.Lys283Arg | |
ENST00000411688.1:c.566A>G | ENSP00000392671.1:p.Lys189Arg | |
ENST00000445971.1:c.*309A>G | ENSP00000404945.1:n.*309A>G | |
ENST00000466602.1:n.970A>G | ||
ENST00000494263.5:n.1282A>G | ||
NM_000784.3:c.848A>G | NP_000775.1:p.Lys283Arg | |
XM_017003488.2:c.428A>G | XP_016858977.1:p.Lys143Arg | |
NM_000784.4:c.848A>G MANE Select | NP_000775.1:p.Lys283Arg |