HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675839C>G , CM000685.2:g.38675839C>G | GRCh38 |
NC_000023.10:g.38535093C>G , CM000685.1:g.38535093C>G | GRCh37 |
NC_000023.9:g.38420037C>G | NCBI36 |
NG_009160.1:g.119363C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.576C>G MANE Select | ENSP00000367743.2:p.Ala192= | |
ENST00000286824.6:c.627C>G | ENSP00000286824.6:p.Ala209= | |
ENST00000378482.6:c.576C>G | ENSP00000367743.2:p.Ala192= | |
ENST00000419600.3:n.520C>G | ||
ENST00000465127.1:c.666C>G | ENSP00000417050.1:p.Ala222= | |
ENST00000471410.5:c.*602C>G | ENSP00000419290.1:n.*602C>G | |
ENST00000475216.5:c.*569C>G | ENSP00000418586.1:n.*569C>G | |
NM_004615.3:c.576C>G | NP_004606.2:p.Ala192= | |
NM_004615.4:c.576C>G MANE Select | NP_004606.2:p.Ala192= |