Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022678G>T , CM000663.2:g.17022678G>T | GRCh38 |
| NC_000001.10:g.17349173G>T , CM000663.1:g.17349173G>T | GRCh37 |
| NC_000001.9:g.17221760G>T | NCBI36 |
| NG_012340.1:g.36493C>A , LRG_316:g.36493C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.524C>A | ENSP00000481376.2:p.Ala175Asp | |
| ENST00000491274.6:c.653C>A | ENSP00000480482.2:p.Ala218Asp | |
| ENST00000375499.8:c.695C>A MANE Select | ENSP00000364649.3:p.Ala232Asp | |
| ENST00000375499.7:c.695C>A | ENSP00000364649.3:p.Ala232Asp | |
| ENST00000475049.5:n.120C>A | ||
| ENST00000485092.5:n.359C>A | ||
| ENST00000485515.5:n.629C>A | ||
| NM_003000.2:c.695C>A , LRG_316t1:c.695C>A | NP_002991.2:p.Ala232Asp | |
| NM_003000.3:c.695C>A MANE Select | NP_002991.2:p.Ala232Asp |