Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924264T>G , CM000675.2:g.27924264T>G | GRCh38 |
| NC_000013.10:g.28498401T>G , CM000675.1:g.28498401T>G | GRCh37 |
| NC_000013.9:g.27396401T>G | NCBI36 |
| NG_008183.1:g.9234T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.415T>G MANE Select | ENSP00000370421.4:p.Tyr139Asp | |
| ENST00000381033.4:c.415T>G | ENSP00000370421.4:p.Tyr139Asp | |
| NM_000209.3:c.415T>G | NP_000200.1:p.Tyr139Asp | |
| XR_941578.1:n.3542T>G | ||
| XR_941579.1:n.2141T>G | ||
| XR_941580.1:n.1057T>G | ||
| XR_941578.2:n.3554T>G | ||
| XR_941580.2:n.1069T>G | ||
| NM_000209.4:c.415T>G MANE Select | NP_000200.1:p.Tyr139Asp |