Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583779T>A , CM000679.2:g.41583779T>A | GRCh38 |
| NC_000017.10:g.39740031T>A , CM000679.1:g.39740031T>A | GRCh37 |
| NC_000017.9:g.36993557T>A | NCBI36 |
| NG_008624.1:g.8117A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.908A>T MANE Select | ENSP00000167586.6:p.Glu303Val | |
| ENST00000167586.6:c.908A>T | ENSP00000167586.6:p.Glu303Val | |
| ENST00000476662.1:n.358A>T | ||
| NM_000526.4:c.908A>T | NP_000517.2:p.Glu303Val | |
| NM_000526.5:c.908A>T MANE Select | NP_000517.3:p.Glu303Val |