HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988981T= , CM000672.2:g.94988981T= | GRCh38 |
NC_000010.10:g.96748738T= , CM000672.1:g.96748738T= | GRCh37 |
NC_000010.9:g.96738728T= | NCBI36 |
NG_008385.1:g.55324T= | |
NG_008385.2:g.55824T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1426T= MANE Select | ENSP00000260682.6:p.Phe476= | |
ENST00000643112.1:c.*435T= | ENSP00000496202.1:n.*435T= | |
ENST00000260682.6:c.1426T= | ENSP00000260682.6:p.Phe476= | |
NM_000771.3:c.1426T= | NP_000762.2:p.Phe476= | |
NM_000771.4:c.1426T= MANE Select | NP_000762.2:p.Phe476= |