HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48523894C>G , CM000685.2:g.48523894C>G | GRCh38 |
NC_000023.10:g.48382282C>G , CM000685.1:g.48382282C>G | GRCh37 |
NC_000023.9:g.48267226C>G | NCBI36 |
NG_007452.1:g.7119C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.123C>G MANE Select | ENSP00000417052.1:p.Val41= | |
ENST00000651615.1:c.123C>G | ENSP00000498524.1:p.Val41= | |
ENST00000276096.10:n.110-29C>G | ||
ENST00000414061.1:c.123C>G | ENSP00000405832.1:p.Val41= | |
ENST00000446158.5:c.123C>G | ENSP00000390031.1:p.Val41= | |
ENST00000495186.5:c.123C>G | ENSP00000417052.1:p.Val41= | |
ENST00000498425.1:n.244C>G | ||
NM_006579.2:c.123C>G | NP_006570.1:p.Val41= | |
NM_006579.3:c.123C>G MANE Select | NP_006570.1:p.Val41= |