HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177129T= , CM000678.2:g.177129T= | GRCh38 |
NC_000016.9:g.227128T= , CM000678.1:g.227128T= | GRCh37 |
NC_000016.8:g.167128T= | NCBI36 |
NG_000006.1:g.37992T= | |
NG_059186.1:g.5479T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.296T= MANE Select | ENSP00000322421.5:p.Phe99= | |
ENST00000397797.1:c.200T= | ENSP00000380899.1:p.Phe67= | |
ENST00000472694.1:n.432T= | ||
ENST00000487791.1:n.265T= | ||
NM_000558.4:c.296T= | NP_000549.1:p.Phe99= | |
NM_000558.5:c.296T= MANE Select | NP_000549.1:p.Phe99= |