HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520076A= , CM000674.2:g.52520076A= | GRCh38 |
NC_000012.11:g.52913860A= , CM000674.1:g.52913860A= | GRCh37 |
NC_000012.10:g.51200127A= | NCBI36 |
NG_008297.1:g.5384T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.221T= MANE Select | ENSP00000252242.4:p.Ile74= | |
ENST00000252242.8:c.221T= | ENSP00000252242.4:p.Ile74= | |
ENST00000546577.1:c.221T= | ENSP00000449651.1:p.Ile74= | |
ENST00000549420.1:c.44-153T= | ENSP00000447209.1:n.44-153T= | |
ENST00000551275.1:c.172+49T= | ENSP00000448041.1:n.172+49T= | |
ENST00000552629.5:n.319T= | ||
NM_000424.3:c.221T= | NP_000415.2:p.Ile74= | |
NM_000424.4:c.221T= MANE Select | NP_000415.2:p.Ile74= |