HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519753A= , CM000674.2:g.52519753A= | GRCh38 |
NC_000012.11:g.52913537A= , CM000674.1:g.52913537A= | GRCh37 |
NC_000012.10:g.51199804A= | NCBI36 |
NG_008297.1:g.5707T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252242.9:c.544T= MANE Select | ENSP00000252242.4:p.Phe182= | |
ENST00000252242.8:c.544T= | ENSP00000252242.4:p.Phe182= | |
ENST00000549420.1:c.214T= | ENSP00000447209.1:p.Phe72= | |
ENST00000551275.1:c.439T= | ENSP00000448041.1:p.Phe147= | |
ENST00000552629.5:n.642T= | ||
NM_000424.3:c.544T= | NP_000415.2:p.Phe182= | |
NM_000424.4:c.544T= MANE Select | NP_000415.2:p.Phe182= |