HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411019T= , CM000677.2:g.48411019T= | GRCh38 |
NC_000015.9:g.48703216T= , CM000677.1:g.48703216T= | GRCh37 |
NC_000015.8:g.46490508T= | NCBI36 |
NG_008805.2:g.239770A= , LRG_778:g.239770A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1395A= | ENSP00000453958.2:n.*1395A= | |
ENST00000682158.1:n.1968A= | ||
ENST00000682170.1:n.2768A= | ||
ENST00000682767.1:n.1884A= | ||
ENST00000316623.10:c.8587A= MANE Select | ENSP00000325527.5:p.Lys2863= | |
ENST00000316623.9:c.8587A= | ENSP00000325527.5:p.Lys2863= | |
ENST00000559133.5:c.3956A= | ||
NM_000138.4:c.8587A= , LRG_778t1:c.8587A= | NP_000129.3:p.Lys2863= | |
NM_000138.5:c.8587A= MANE Select | NP_000129.3:p.Lys2863= |