HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218889990G>A , CM000664.2:g.218889990G>A | GRCh38 |
NC_000002.11:g.219754712G>A , CM000664.1:g.219754712G>A | GRCh37 |
NC_000002.10:g.219462956G>A | NCBI36 |
NG_012179.1:g.14458G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.383G>A MANE Select | ENSP00000258411.3:p.Arg128Gln | |
ENST00000258411.7:c.383G>A | ENSP00000258411.3:p.Arg128Gln | |
ENST00000458582.1:c.264-2784G>A | ||
ENST00000483911.1:n.481G>A | ||
NM_025216.2:c.383G>A | NP_079492.2:p.Arg128Gln | |
XM_011511928.1:c.332G>A | XP_011510230.1:p.Arg111Gln | |
XM_011511929.1:c.287G>A | XP_011510231.1:p.Arg96Gln | |
XM_011511930.1:c.377-2784G>A | XP_011510232.1:n.377-2784G>A | |
XM_011511929.2:c.287G>A | XP_011510231.1:p.Arg96Gln | |
NM_025216.3:c.383G>A MANE Select | NP_079492.2:p.Arg128Gln |