HGVS | Genome Assembly |
---|---|
NC_000010.11:g.16828928C>T , CM000672.2:g.16828928C>T | GRCh38 |
NC_000010.10:g.16870927C>T , CM000672.1:g.16870927C>T | GRCh37 |
NC_000010.9:g.16910933C>T | NCBI36 |
NG_008967.1:g.305890G>A , LRG_540:g.305890G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.10641G>A MANE Select | ENSP00000367064.4:p.Arg3547= | |
ENST00000377833.8:c.10641G>A | ENSP00000367064.4:p.Arg3547= | |
NM_001081.3:c.10641G>A , LRG_540t1:c.10641G>A | NP_001072.2:p.Arg3547= | |
XM_011519709.1:c.6627G>A | XP_011518011.1:p.Arg2209= | |
XM_011519710.1:c.6603G>A | XP_011518012.1:p.Arg2201= | |
XM_011519711.1:c.6483G>A | XP_011518013.1:p.Arg2161= | |
XM_011519709.2:c.6627G>A | XP_011518011.1:p.Arg2209= | |
XM_011519710.2:c.6603G>A | XP_011518012.1:p.Arg2201= | |
XM_011519711.3:c.6483G>A | XP_011518013.1:p.Arg2161= | |
NM_001081.4:c.10641G>A MANE Select | NP_001072.2:p.Arg3547= |