Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045687T>G , CM000675.2:g.48045687T>G | GRCh38 |
| NC_000013.10:g.48619823T>G , CM000675.1:g.48619823T>G | GRCh37 |
| NC_000013.9:g.47517824T>G | NCBI36 |
| NG_047021.1:g.13121T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.383T>G MANE Select | ENSP00000258662.1:p.Leu128Arg | |
| ENST00000258662.2:c.383T>G | ENSP00000258662.1:p.Leu128Arg | |
| NM_018283.2:c.383T>G | NP_060753.1:p.Leu128Arg | |
| NM_018283.3:c.383T>G | NP_060753.1:p.Leu128Arg | |
| NR_136687.1:n.563T>G | ||
| NR_136688.1:n.563T>G | ||
| NM_018283.4:c.383T>G MANE Select | NP_060753.1:p.Leu128Arg | |
| NR_136687.2:n.404T>G | ||
| NR_136688.2:n.404T>G |