Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852938A= , CM000674.2:g.102852938A= | GRCh38 |
| NC_000012.11:g.103246716A= , CM000674.1:g.103246716A= | GRCh37 |
| NC_000012.10:g.101770846A= | NCBI36 |
| NG_008690.1:g.69665T= | |
| NG_008690.2:g.110473T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.3:c.719T= MANE Select | NP_000268.1:p.Phe240= |
| ENST00000553106.6:c.719T= MANE Select | ENSP00000448059.1:p.Phe240= |
| NM_000277.1:c.719T= | NP_000268.1:p.Phe240= |
| NM_000277.2:c.719T= | NP_000268.1:p.Phe240= |
| NM_001354304.1:c.719T= | NP_001341233.1:p.Phe240= |
| NM_001354304.2:c.719T= | NP_001341233.1:p.Phe240= |
| ENST00000307000.7:c.704T= | ENSP00000303500.2:p.Phe235= |
| ENST00000549247.6:n.478T= | |
| ENST00000553106.5:c.719T= | ENSP00000448059.1:p.Phe240= |
| XM_011538422.1:c.719T= | XP_011536724.1:p.Phe240= |