HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63606316T>G , CM000679.2:g.63606316T>G | GRCh38 |
NC_000017.10:g.61683676T>G , CM000679.1:g.61683676T>G | GRCh37 |
NC_000017.9:g.59037408T>G | NCBI36 |
NG_016979.1:g.10446T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682060.1:n.153T>G | ||
ENST00000684587.1:c.388T>G | ENSP00000507435.1:p.Ser130Ala | |
ENST00000690765.1:c.*217T>G | ENSP00000510085.1:n.*217T>G | |
ENST00000258975.7:c.391T>G MANE Select | ENSP00000258975.6:p.Ser131Ala | |
ENST00000258975.6:c.391T>G | ENSP00000258975.6:p.Ser131Ala | |
ENST00000581120.1:n.593T>G | ||
NM_016360.3:c.391T>G | NP_057444.2:p.Ser131Ala | |
NM_016360.4:c.391T>G MANE Select | NP_057444.2:p.Ser131Ala |