HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411054T>C , CM000677.2:g.48411054T>C | GRCh38 |
NC_000015.9:g.48703251T>C , CM000677.1:g.48703251T>C | GRCh37 |
NC_000015.8:g.46490543T>C | NCBI36 |
NG_008805.2:g.239735A>G , LRG_778:g.239735A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1360A>G | ENSP00000453958.2:n.*1360A>G | |
ENST00000682158.1:n.1933A>G | ||
ENST00000682170.1:n.2733A>G | ||
ENST00000682767.1:n.1849A>G | ||
ENST00000316623.10:c.8552A>G MANE Select | ENSP00000325527.5:p.Lys2851Arg | |
ENST00000316623.9:c.8552A>G | ENSP00000325527.5:p.Lys2851Arg | |
ENST00000559133.5:c.3921A>G | ||
NM_000138.4:c.8552A>G , LRG_778t1:c.8552A>G | NP_000129.3:p.Lys2851Arg | |
NM_000138.5:c.8552A>G MANE Select | NP_000129.3:p.Lys2851Arg |