HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812553T= , CM000664.2:g.218812553T= | GRCh38 |
NC_000002.11:g.219677276T= , CM000664.1:g.219677276T= | GRCh37 |
NC_000002.10:g.219385520T= | NCBI36 |
NG_007959.1:g.35805T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.648T= MANE Select | ENSP00000258415.4:p.Ala216= | |
ENST00000258415.8:c.648T= | ENSP00000258415.4:p.Ala216= | |
ENST00000411688.1:c.366T= | ENSP00000392671.1:p.Ala122= | |
ENST00000445971.1:c.*109T= | ENSP00000404945.1:n.*109T= | |
ENST00000466602.1:n.596T= | ||
ENST00000494263.5:n.1082T= | ||
NM_000784.3:c.648T= | NP_000775.1:p.Ala216= | |
XM_017003488.2:c.228T= | XP_016858977.1:p.Ala76= | |
NM_000784.4:c.648T= MANE Select | NP_000775.1:p.Ala216= |