Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787116A>C , CM000686.2:g.2787116A>C | GRCh38 |
| NC_000024.9:g.2655157A>C , CM000686.1:g.2655157A>C | GRCh37 |
| NC_000024.8:g.2715157A>C | NCBI36 |
| NG_011751.1:g.5636T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12377A>C | ||
| ENST00000679825.1:n.228A>C | ||
| ENST00000680285.1:n.320-2633A>C | ||
| ENST00000680845.1:n.165+63A>C | ||
| ENST00000681787.1:n.106+12377A>C | ||
| ENST00000681940.1:n.106+12377A>C | ||
| ENST00000383070.2:c.488T>G MANE Select | ENSP00000372547.1:p.Leu163Trp | |
| ENST00000383070.1:c.488T>G | ENSP00000372547.1:p.Leu163Trp | |
| NM_003140.2:c.488T>G | NP_003131.1:p.Leu163Trp | |
| NM_003140.3:c.488T>G MANE Select | NP_003131.1:p.Leu163Trp |