HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082777G= , CM000682.2:g.3082777G= | GRCh38 |
NC_000020.10:g.3063423G= , CM000682.1:g.3063423G= | GRCh37 |
NC_000020.9:g.3011423G= | NCBI36 |
NG_008663.1:g.6948C= , LRG_715:g.6948C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.348C= MANE Select | ENSP00000369647.3:p.Cys116= | |
NM_000490.4:c.348C= , LRG_715t1:c.348C= | NP_000481.2:p.Cys116= | |
XM_011529267.1:c.348C= | XP_011527569.1:p.Cys116= | |
XM_011529267.2:c.348C= | XP_011527569.1:p.Cys116= | |
NM_000490.5:c.348C= MANE Select | NP_000481.2:p.Cys116= |