HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675850T>A , CM000685.2:g.38675850T>A | GRCh38 |
NC_000023.10:g.38535104T>A , CM000685.1:g.38535104T>A | GRCh37 |
NC_000023.9:g.38420048T>A | NCBI36 |
NG_009160.1:g.119374T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.587T>A MANE Select | ENSP00000367743.2:p.Val196Asp | |
ENST00000286824.6:c.638T>A | ENSP00000286824.6:p.Val213Asp | |
ENST00000378482.6:c.587T>A | ENSP00000367743.2:p.Val196Asp | |
ENST00000419600.3:n.531T>A | ||
ENST00000465127.1:c.677T>A | ENSP00000417050.1:p.Val226Asp | |
ENST00000471410.5:c.*613T>A | ENSP00000419290.1:n.*613T>A | |
ENST00000475216.5:c.*580T>A | ENSP00000418586.1:n.*580T>A | |
NM_004615.3:c.587T>A | NP_004606.2:p.Val196Asp | |
NM_004615.4:c.587T>A MANE Select | NP_004606.2:p.Val196Asp |