HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16290534A>T , CM000668.2:g.16290534A>T | GRCh38 |
NC_000006.11:g.16290765A>T , CM000668.1:g.16290765A>T | GRCh37 |
NC_000006.10:g.16398744A>T | NCBI36 |
NG_013303.1:g.56955A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259727.5:c.770A>T MANE Select | ENSP00000259727.4:p.Glu257Val | |
ENST00000259727.4:c.770A>T | ENSP00000259727.4:p.Glu257Val | |
ENST00000540478.1:n.590A>T | ||
ENST00000543191.5:n.265A>T | ||
ENST00000544145.1:n.124A>T | ||
NM_006877.3:c.770A>T | NP_006868.3:p.Glu257Val | |
XM_011514508.1:c.913A>T | XP_011512810.1:p.Arg305Ter | |
XM_011514508.2:c.913A>T | XP_011512810.1:p.Arg305Ter | |
NM_006877.4:c.770A>T MANE Select | NP_006868.3:p.Glu257Val |