HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675842C= , CM000685.2:g.38675842C= | GRCh38 |
NC_000023.10:g.38535096C= , CM000685.1:g.38535096C= | GRCh37 |
NC_000023.9:g.38420040C= | NCBI36 |
NG_009160.1:g.119366C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.579C= MANE Select | ENSP00000367743.2:p.Ala193= | |
ENST00000286824.6:c.630C= | ENSP00000286824.6:p.Ala210= | |
ENST00000378482.6:c.579C= | ENSP00000367743.2:p.Ala193= | |
ENST00000419600.3:n.523C= | ||
ENST00000465127.1:c.669C= | ENSP00000417050.1:p.Ala223= | |
ENST00000471410.5:c.*605C= | ENSP00000419290.1:n.*605C= | |
ENST00000475216.5:c.*572C= | ENSP00000418586.1:n.*572C= | |
NM_004615.3:c.579C= | NP_004606.2:p.Ala193= | |
NM_004615.4:c.579C= MANE Select | NP_004606.2:p.Ala193= |