Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454354T>G , CM000679.2:g.7454354T>G | GRCh38 |
| NC_000017.10:g.7357673T>G , CM000679.1:g.7357673T>G | GRCh37 |
| NC_000017.9:g.7298397T>G | NCBI36 |
| NG_008026.1:g.14268T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.878T>G MANE Select | ENSP00000304290.2:p.Leu293Arg | |
| ENST00000306071.6:c.878T>G | ENSP00000304290.2:p.Leu293Arg | |
| ENST00000536404.6:c.662T>G | ENSP00000439209.2:p.Leu221Arg | |
| ENST00000570557.5:c.541T>G | ||
| ENST00000573209.1:n.1822T>G | ||
| ENST00000576360.1:c.605-90T>G | ENSP00000459092.1:n.605-90T>G | |
| NM_000747.2:c.878T>G | NP_000738.2:p.Leu293Arg | |
| NM_000747.3:c.878T>G MANE Select | NP_000738.2:p.Leu293Arg |