HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133537858C= , CM000672.2:g.133537858C= | GRCh38 |
NG_008383.1:g.15496C= |
HGVS | Amino-acid Change |
---|---|
NM_000773.4:c.1263C= MANE Select | NP_000764.1:p.Phe421= |
ENST00000252945.8:c.1263C= MANE Select | ENSP00000252945.3:p.Phe421= |
NM_000773.3:c.1263C= | NP_000764.1:p.Phe421= |
ENST00000252945.7:c.1263C= | ENSP00000252945.3:p.Phe421= |
ENST00000368520.1:n.1324C= | |
ENST00000418356.1:c.852C= | ENSP00000397299.1:p.Phe284= |
ENST00000421586.5:c.1002C= | ENSP00000412754.1:p.Phe334= |
ENST00000463117.6:c.1263C= | ENSP00000440689.1:p.Phe421= |
ENST00000469258.1:n.359C= | |
ENST00000541080.5:c.679C= |