Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191878A>C , CM000670.2:g.23191878A>C | GRCh38 |
| NC_000008.10:g.23049391A>C , CM000670.1:g.23049391A>C | GRCh37 |
| NC_000008.9:g.23105336A>C | NCBI36 |
| NG_032107.1:g.38290T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1223T>G MANE Select | ENSP00000221132.3:p.Leu408Trp | |
| ENST00000221132.7:c.1223T>G | ENSP00000221132.3:p.Leu408Trp | |
| ENST00000519862.1:n.278T>G | ||
| ENST00000613472.1:c.749T>G | ENSP00000480778.1:p.Leu250Trp | |
| NM_003844.3:c.1223T>G | NP_003835.3:p.Leu408Trp | |
| NM_003844.4:c.1223T>G MANE Select | NP_003835.3:p.Leu408Trp |