HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675805G= , CM000685.2:g.38675805G= | GRCh38 |
NC_000023.10:g.38535059G= , CM000685.1:g.38535059G= | GRCh37 |
NC_000023.9:g.38420003G= | NCBI36 |
NG_009160.1:g.119329G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.542G= MANE Select | ENSP00000367743.2:p.Cys181= | |
ENST00000286824.6:c.593G= | ENSP00000286824.6:p.Cys198= | |
ENST00000378482.6:c.542G= | ENSP00000367743.2:p.Cys181= | |
ENST00000419600.3:n.486G= | ||
ENST00000465127.1:c.632G= | ENSP00000417050.1:p.Cys211= | |
ENST00000471410.5:c.*568G= | ENSP00000419290.1:n.*568G= | |
ENST00000475216.5:c.*535G= | ENSP00000418586.1:n.*535G= | |
ENST00000488893.5:n.725G= | ||
NM_004615.3:c.542G= | NP_004606.2:p.Cys181= | |
NM_004615.4:c.542G= MANE Select | NP_004606.2:p.Cys181= |