Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787365A>T , CM000686.2:g.2787365A>T | GRCh38 |
| NC_000024.9:g.2655406A>T , CM000686.1:g.2655406A>T | GRCh37 |
| NC_000024.8:g.2715406A>T | NCBI36 |
| NG_011751.1:g.5387T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12626A>T | ||
| ENST00000679825.1:n.477A>T | ||
| ENST00000680285.1:n.320-2384A>T | ||
| ENST00000680845.1:n.166-115A>T | ||
| ENST00000681787.1:n.106+12626A>T | ||
| ENST00000681940.1:n.106+12626A>T | ||
| ENST00000383070.2:c.239T>A MANE Select | ENSP00000372547.1:p.Leu80Gln | |
| ENST00000383070.1:c.239T>A | ENSP00000372547.1:p.Leu80Gln | |
| NM_003140.2:c.239T>A | NP_003131.1:p.Leu80Gln | |
| NM_003140.3:c.239T>A MANE Select | NP_003131.1:p.Leu80Gln |