Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633460A>G , CM000681.2:g.48633460A>G | GRCh38 |
| NC_000019.9:g.49136717A>G , CM000681.1:g.49136717A>G | GRCh37 |
| NC_000019.8:g.53828529A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.746T>C MANE Select | ENSP00000222122.4:p.Val249Ala | |
| ENST00000222122.9:c.746T>C | ENSP00000222122.4:p.Val249Ala | |
| ENST00000593500.1:c.140T>C | ENSP00000471220.1:p.Val47Ala | |
| ENST00000594723.1:n.2989T>C | ||
| ENST00000599385.5:c.140T>C | ENSP00000469426.1:p.Val47Ala | |
| ENST00000601104.1:c.746T>C | ENSP00000469291.1:p.Val249Ala | |
| NM_001352.4:c.746T>C | NP_001343.2:p.Val249Ala | |
| XM_017026388.2:c.317T>C | XP_016881877.1:p.Val106Ala | |
| XR_243907.4:n.1651T>C | ||
| NM_001352.5:c.746T>C MANE Select | NP_001343.2:p.Val249Ala |