HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124873002A>G , CM000673.2:g.124873002A>G | GRCh38 |
NC_000011.9:g.124742898A>G , CM000673.1:g.124742898A>G | GRCh37 |
NC_000011.8:g.124248108A>G | NCBI36 |
NG_016214.1:g.12594A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1449A>G MANE Select | ENSP00000380903.1:p.Arg483= | |
ENST00000397801.5:c.1449A>G | ENSP00000380903.1:p.Arg483= | |
ENST00000538940.5:c.1383A>G | ENSP00000441797.1:p.Arg461= | |
NM_022370.3:c.1449A>G | NP_071765.2:p.Arg483= | |
XM_011542953.1:c.2421A>G | XP_011541255.1:p.Arg807= | |
XM_017018122.1:c.1383A>G | XP_016873611.1:p.Arg461= | |
NM_022370.4:c.1449A>G MANE Select | NP_071765.2:p.Arg483= |