HGVS | Genome Assembly |
---|---|
NC_000011.10:g.763406C>G , CM000673.2:g.763406C>G | GRCh38 |
NC_000011.9:g.763406C>G , CM000673.1:g.763406C>G | GRCh37 |
NC_000011.8:g.753406C>G | NCBI36 |
NG_008160.1:g.20975C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319006.8:c.524C>G MANE Select | ENSP00000321259.3:p.Ala175Gly | |
ENST00000319006.7:c.524C>G | ENSP00000321259.3:p.Ala175Gly | |
ENST00000528070.5:c.*522C>G | ENSP00000435042.1:n.*522C>G | |
ENST00000528097.5:c.524C>G | ENSP00000437098.1:p.Ala175Gly | |
ENST00000530440.1:c.*183C>G | ENSP00000433501.1:n.*183C>G | |
NM_006755.1:c.524C>G | NP_006746.1:p.Ala175Gly | |
NM_006755.2:c.524C>G MANE Select | NP_006746.1:p.Ala175Gly |