HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431503A= , CM000663.2:g.229431503A= | GRCh38 |
NC_000001.10:g.229567250A= , CM000663.1:g.229567250A= | GRCh37 |
NC_000001.9:g.227633873A= | NCBI36 |
NG_006672.1:g.7594T= , LRG_429:g.7594T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.1052T= | ENSP00000355644.4:p.Phe351= | |
ENST00000684723.1:c.995T= | ENSP00000508084.1:p.Phe332= | |
ENST00000366683.3:c.761T= | ENSP00000355644.3:p.Phe254= | |
ENST00000366684.7:c.1130T= MANE Select | ENSP00000355645.3:p.Phe377= | |
NM_001100.3:c.1130T= , LRG_429t1:c.1130T= | NP_001091.1:p.Phe377= | |
NM_001100.4:c.1130T= MANE Select | NP_001091.1:p.Phe377= |