Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591703A>T , CM000677.2:g.80591703A>T | GRCh38 |
| NC_000015.9:g.80884044A>T , CM000677.1:g.80884044A>T | GRCh37 |
| NC_000015.8:g.78671099A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2054A>T MANE Select | ENSP00000307479.4:p.Gln685Leu | |
| ENST00000303329.8:c.2054A>T | ENSP00000307479.4:p.Gln685Leu | |
| ENST00000527771.5:c.2021A>T | ENSP00000453792.1:p.Gln674Leu | |
| ENST00000533983.5:c.2021A>T | ENSP00000453651.1:p.Gln674Leu | |
| ENST00000610490.4:c.*352A>T | ENSP00000483762.1:n.*352A>T | |
| ENST00000622346.4:c.2054A>T | ENSP00000479393.1:p.Gln685Leu | |
| NM_014862.3:c.2054A>T | NP_055677.3:p.Gln685Leu | |
| NM_014862.4:c.2054A>T MANE Select | NP_055677.3:p.Gln685Leu |