HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63606320A>G , CM000679.2:g.63606320A>G | GRCh38 |
NC_000017.10:g.61683680A>G , CM000679.1:g.61683680A>G | GRCh37 |
NC_000017.9:g.59037412A>G | NCBI36 |
NG_016979.1:g.10450A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682060.1:n.157A>G | ||
ENST00000684587.1:c.392A>G | ENSP00000507435.1:p.Lys131Arg | |
ENST00000690765.1:c.*221A>G | ENSP00000510085.1:n.*221A>G | |
ENST00000258975.7:c.395A>G MANE Select | ENSP00000258975.6:p.Lys132Arg | |
ENST00000258975.6:c.395A>G | ENSP00000258975.6:p.Lys132Arg | |
ENST00000581120.1:n.597A>G | ||
NM_016360.3:c.395A>G | NP_057444.2:p.Lys132Arg | |
NM_016360.4:c.395A>G MANE Select | NP_057444.2:p.Lys132Arg |