Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529637C>G , CM000681.2:g.7529637C>G | GRCh38 |
| NC_000019.9:g.7594523C>G , CM000681.1:g.7594523C>G | GRCh37 |
| NC_000019.8:g.7500523C>G | NCBI36 |
| NG_013374.1:g.486C>G | |
| NG_015806.1:g.12028C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1284C>G MANE Select | ENSP00000264079.5:p.Phe428Leu | |
| ENST00000264079.10:c.1284C>G | ENSP00000264079.5:p.Phe428Leu | |
| ENST00000394321.9:n.1599C>G | ||
| ENST00000594692.1:n.280C>G | ||
| ENST00000595860.5:n.467C>G | ||
| ENST00000599334.1:c.161C>G | ||
| NM_020533.2:c.1284C>G | NP_065394.1:p.Phe428Leu | |
| NM_020533.3:c.1284C>G MANE Select | NP_065394.1:p.Phe428Leu |