Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115580A>C , CM000681.2:g.10115580A>C | GRCh38 |
| NC_000019.9:g.10226256A>C , CM000681.1:g.10226256A>C | GRCh37 |
| NC_000019.8:g.10087256A>C | NCBI36 |
| NG_047007.1:g.9060A>C | |
| NG_051197.1:g.9345T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.846T>G MANE Select | ENSP00000253108.3:p.Phe282Leu | |
| ENST00000253108.8:c.846T>G | ENSP00000253108.3:p.Phe282Leu | |
| ENST00000589454.5:c.822T>G | ENSP00000466860.1:p.Phe274Leu | |
| ENST00000590158.1:n.865T>G | ||
| ENST00000593054.5:c.240T>G | ENSP00000467187.1:p.Phe80Leu | |
| NM_003755.3:c.846T>G | NP_003746.2:p.Phe282Leu | |
| NM_003755.4:c.846T>G | NP_003746.2:p.Phe282Leu | |
| NM_003755.5:c.846T>G MANE Select | NP_003746.2:p.Phe282Leu |