HGVS | Genome Assembly |
---|---|
NC_000011.10:g.763395C>A , CM000673.2:g.763395C>A | GRCh38 |
NC_000011.9:g.763395C>A , CM000673.1:g.763395C>A | GRCh37 |
NC_000011.8:g.753395C>A | NCBI36 |
NG_008160.1:g.20964C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319006.8:c.513C>A MANE Select | ENSP00000321259.3:p.Ser171= | |
ENST00000319006.7:c.513C>A | ENSP00000321259.3:p.Ser171= | |
ENST00000528070.5:c.*511C>A | ENSP00000435042.1:n.*511C>A | |
ENST00000528097.5:c.513C>A | ENSP00000437098.1:p.Ser171= | |
ENST00000530440.1:c.*172C>A | ENSP00000433501.1:n.*172C>A | |
NM_006755.1:c.513C>A | NP_006746.1:p.Ser171= | |
NM_006755.2:c.513C>A MANE Select | NP_006746.1:p.Ser171= |