HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63606317C>G , CM000679.2:g.63606317C>G | GRCh38 |
NC_000017.10:g.61683677C>G , CM000679.1:g.61683677C>G | GRCh37 |
NC_000017.9:g.59037409C>G | NCBI36 |
NG_016979.1:g.10447C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682060.1:n.154C>G | ||
ENST00000684587.1:c.389C>G | ENSP00000507435.1:p.Ser130Cys | |
ENST00000690765.1:c.*218C>G | ENSP00000510085.1:n.*218C>G | |
ENST00000258975.7:c.392C>G MANE Select | ENSP00000258975.6:p.Ser131Cys | |
ENST00000258975.6:c.392C>G | ENSP00000258975.6:p.Ser131Cys | |
ENST00000581120.1:n.594C>G | ||
NM_016360.3:c.392C>G | NP_057444.2:p.Ser131Cys | |
NM_016360.4:c.392C>G MANE Select | NP_057444.2:p.Ser131Cys |