HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80649393G>A , CM000667.2:g.80649393G>A | GRCh38 |
NC_000005.9:g.79945212G>A , CM000667.1:g.79945212G>A | GRCh37 |
NC_000005.8:g.79980968G>A | NCBI36 |
NG_023304.1:g.10589C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000439211.7:c.238C>T MANE Select | ENSP00000396308.2:p.Leu80Phe | |
ENST00000439211.6:c.238C>T | ENSP00000396308.2:p.Leu80Phe | |
ENST00000504396.1:c.82C>T | ENSP00000421334.1:p.Leu28Phe | |
ENST00000505337.5:c.238C>T | ENSP00000426474.1:p.Leu80Phe | |
ENST00000508282.1:n.196C>T | ||
ENST00000511032.5:c.238C>T | ENSP00000422732.1:p.Leu80Phe | |
ENST00000513048.5:n.246C>T | ||
ENST00000513314.1:n.130C>T | ||
NM_000791.3:c.238C>T | NP_000782.1:p.Leu80Phe | |
NM_001290354.1:c.82C>T | NP_001277283.1:p.Leu28Phe | |
NM_001290357.1:c.238C>T | NP_001277286.1:p.Leu80Phe | |
NR_110936.1:n.680C>T | ||
NM_000791.4:c.238C>T MANE Select | NP_000782.1:p.Leu80Phe | |
NM_001290354.2:c.82C>T | NP_001277283.1:p.Leu28Phe | |
NM_001290357.2:c.238C>T | NP_001277286.1:p.Leu80Phe | |
NR_110936.2:n.682C>T |