HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675851T= , CM000685.2:g.38675851T= | GRCh38 |
NC_000023.10:g.38535105T= , CM000685.1:g.38535105T= | GRCh37 |
NC_000023.9:g.38420049T= | NCBI36 |
NG_009160.1:g.119375T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.588T= MANE Select | ENSP00000367743.2:p.Val196= | |
ENST00000286824.6:c.639T= | ENSP00000286824.6:p.Val213= | |
ENST00000378482.6:c.588T= | ENSP00000367743.2:p.Val196= | |
ENST00000419600.3:n.532T= | ||
ENST00000465127.1:c.678T= | ENSP00000417050.1:p.Val226= | |
ENST00000471410.5:c.*614T= | ENSP00000419290.1:n.*614T= | |
ENST00000475216.5:c.*581T= | ENSP00000418586.1:n.*581T= | |
NM_004615.3:c.588T= | NP_004606.2:p.Val196= | |
NM_004615.4:c.588T= MANE Select | NP_004606.2:p.Val196= |