HGVS | Genome Assembly |
---|---|
NC_000011.10:g.763401C>G , CM000673.2:g.763401C>G | GRCh38 |
NC_000011.9:g.763401C>G , CM000673.1:g.763401C>G | GRCh37 |
NC_000011.8:g.753401C>G | NCBI36 |
NG_008160.1:g.20970C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319006.8:c.519C>G MANE Select | ENSP00000321259.3:p.Ala173= | |
ENST00000319006.7:c.519C>G | ENSP00000321259.3:p.Ala173= | |
ENST00000528070.5:c.*517C>G | ENSP00000435042.1:n.*517C>G | |
ENST00000528097.5:c.519C>G | ENSP00000437098.1:p.Ala173= | |
ENST00000530440.1:c.*178C>G | ENSP00000433501.1:n.*178C>G | |
NM_006755.1:c.519C>G | NP_006746.1:p.Ala173= | |
NM_006755.2:c.519C>G MANE Select | NP_006746.1:p.Ala173= |