HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058856C>A , CM000664.2:g.189058856C>A | GRCh38 |
NC_000002.11:g.189923582C>A , CM000664.1:g.189923582C>A | GRCh37 |
NC_000002.10:g.189631827C>A | NCBI36 |
NG_011799.1:g.126024G>T | |
NG_011799.2:g.126024G>T | |
NG_011799.3:g.171446G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2123G>T MANE Select | ENSP00000364000.3:p.Gly708Val | |
ENST00000374866.7:c.2123G>T | ENSP00000364000.3:p.Gly708Val | |
ENST00000470524.2:n.229G>T | ||
ENST00000618828.1:c.962G>T | ENSP00000482184.1:p.Gly321Val | |
NM_000393.3:c.2123G>T | NP_000384.2:p.Gly708Val | |
XM_011510573.1:c.1985G>T | XP_011508875.1:p.Gly662Val | |
NM_000393.4:c.2123G>T | NP_000384.2:p.Gly708Val | |
XM_011510573.3:c.1985G>T | XP_011508875.1:p.Gly662Val | |
NM_000393.5:c.2123G>T MANE Select | NP_000384.2:p.Gly708Val |