HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44118547G= , CM000682.2:g.44118547G= | GRCh38 |
NC_000020.10:g.42747187G= , CM000682.1:g.42747187G= | GRCh37 |
NC_000020.9:g.42180601G= | NCBI36 |
NG_031867.1:g.74032C= , LRG_394:g.74032C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372980.4:c.1246C= MANE Select | ENSP00000362071.3:p.Arg416= | |
ENST00000372980.3:c.1246C= | ENSP00000362071.3:p.Arg416= | |
NM_020433.4:c.1246C= , LRG_394t1:c.1246C= | NP_065166.2:p.Arg416= | |
XM_006723832.2:c.1246C= | XP_006723895.1:p.Arg416= | |
NM_020433.5:c.1246C= MANE Select | NP_065166.2:p.Arg416= |