Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524762C>A , CM000680.2:g.31524762C>A | GRCh38 |
| NC_000018.9:g.29104725C>A , CM000680.1:g.29104725C>A | GRCh37 |
| NC_000018.8:g.27358723C>A | NCBI36 |
| NG_007072.3:g.31521C>A , LRG_397:g.31521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.719C>A | ||
| ENST00000683614.2:n.719C>A | ||
| ENST00000682087.1:c.719C>A | ||
| ENST00000683614.1:c.719C>A | ||
| ENST00000261590.13:c.888C>A MANE Select | ENSP00000261590.8:p.Phe296Leu | |
| ENST00000261590.12:c.888C>A | ENSP00000261590.8:p.Phe296Leu | |
| NM_001943.3:c.888C>A , LRG_397t1:c.888C>A | NP_001934.2:p.Phe296Leu | |
| NM_001943.4:c.888C>A | NP_001934.2:p.Phe296Leu | |
| XM_024451095.1:c.354C>A | XP_024306863.1:p.Phe118Leu | |
| NM_001943.5:c.888C>A MANE Select | NP_001934.2:p.Phe296Leu |