Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20892138T>A , CM000676.2:g.20892138T>A | GRCh38 |
| NC_000014.8:g.21360297T>A , CM000676.1:g.21360297T>A | GRCh37 |
| NC_000014.7:g.20430137T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304639.4:c.452T>A MANE Select | ENSP00000302324.3:p.Val151Glu | |
| ENST00000304639.3:c.452T>A | ENSP00000302324.3:p.Val151Glu | |
| NM_002935.2:c.452T>A | NP_002926.2:p.Val151Glu | |
| XR_110261.2:n.209-16395A>T | ||
| XR_110261.3:n.726-16395A>T | ||
| NM_002935.3:c.452T>A MANE Select | NP_002926.2:p.Val151Glu |