Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133626710G>T , CM000672.2:g.133626710G>T | GRCh38 |
| NC_000010.10:g.135440214G>T , CM000672.1:g.135440214G>T | GRCh37 |
| NC_000010.9:g.135290204G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425520.2:c.33C>A MANE Select | ENSP00000401310.1:p.His11Gln | |
| ENST00000425520.1:c.33C>A | ENSP00000401310.1:p.His11Gln | |
| ENST00000443774.5:c.33C>A | ENSP00000408343.1:p.His11Gln | |
| NM_001080998.1:c.33C>A | NP_001074467.1:p.His11Gln | |
| XM_011539819.1:c.33C>A | XP_011538121.1:p.His11Gln | |
| XM_011539820.1:c.33C>A | XP_011538122.1:p.His11Gln | |
| XM_011539821.1:c.33C>A | XP_011538123.1:p.His11Gln | |
| NM_001080998.2:c.33C>A MANE Select | NP_001074467.1:p.His11Gln |