HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455354A>T , CM000679.2:g.7455354A>T | GRCh38 |
NC_000017.10:g.7358673A>T , CM000679.1:g.7358673A>T | GRCh37 |
NC_000017.9:g.7299397A>T | NCBI36 |
NG_008026.1:g.15268A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1115A>T MANE Select | ENSP00000304290.2:p.Glu372Val | |
ENST00000306071.6:c.1115A>T | ENSP00000304290.2:p.Glu372Val | |
ENST00000536404.6:c.899A>T | ENSP00000439209.2:p.Glu300Val | |
ENST00000570557.5:c.778A>T | ||
ENST00000573209.1:n.2059A>T | ||
ENST00000576360.1:c.752A>T | ENSP00000459092.1:p.Glu251Val | |
NM_000747.2:c.1115A>T | NP_000738.2:p.Glu372Val | |
NM_000747.3:c.1115A>T MANE Select | NP_000738.2:p.Glu372Val |