HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29399253T= , CM000685.2:g.29399253T= | GRCh38 |
NC_000023.10:g.29417370T= , CM000685.1:g.29417370T= | GRCh37 |
NC_000023.9:g.29327291T= | NCBI36 |
NG_008292.1:g.816690T= | |
NG_008292.2:g.816690T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.648T= MANE Select | ENSP00000368278.1:p.Cys216= | |
ENST00000378993.5:c.648T= | ENSP00000368278.1:p.Cys216= | |
NM_014271.3:c.648T= | NP_055086.1:p.Cys216= | |
XM_005274441.1:c.648T= | XP_005274498.1:p.Cys216= | |
XM_011545445.1:c.648T= | XP_011543747.1:p.Cys216= | |
XM_017029240.1:c.648T= | XP_016884729.1:p.Cys216= | |
XM_017029241.1:c.270T= | XP_016884730.1:p.Cys90= | |
NM_014271.4:c.648T= MANE Select | NP_055086.1:p.Cys216= |