Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173487C>A , CM000678.2:g.173487C>A | GRCh38 |
| NC_000016.9:g.223486C>A , CM000678.1:g.223486C>A | GRCh37 |
| NC_000016.8:g.163486C>A | NCBI36 |
| NG_000006.1:g.34350C>A | |
| NG_059186.1:g.1837C>A | |
| NG_059271.1:g.5641C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.316C>A MANE Select | ENSP00000251595.6:p.Leu106Met | |
| ENST00000251595.10:c.316C>A | ENSP00000251595.6:p.Leu106Met | |
| ENST00000397806.1:c.220C>A | ENSP00000380908.1:p.Leu74Met | |
| ENST00000482565.1:n.452C>A | ||
| NM_000517.4:c.316C>A | NP_000508.1:p.Leu106Met | |
| NM_000517.6:c.316C>A MANE Select | NP_000508.1:p.Leu106Met |