Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527283T>A , CM000685.2:g.48527283T>A | GRCh38 |
| NC_000023.10:g.48385671T>A , CM000685.1:g.48385671T>A | GRCh37 |
| NC_000023.9:g.48270615T>A | NCBI36 |
| NG_007452.1:g.10508T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.467T>A MANE Select | ENSP00000417052.1:p.Val156Glu | |
| ENST00000651615.1:c.467T>A | ENSP00000498524.1:p.Val156Glu | |
| ENST00000276096.10:n.425T>A | ||
| ENST00000446158.5:c.467T>A | ENSP00000390031.1:p.Val156Glu | |
| ENST00000466461.1:n.306T>A | ||
| ENST00000495186.5:c.467T>A | ENSP00000417052.1:p.Val156Glu | |
| ENST00000498425.1:n.588T>A | ||
| NM_006579.2:c.467T>A | NP_006570.1:p.Val156Glu | |
| NM_006579.3:c.467T>A MANE Select | NP_006570.1:p.Val156Glu |