Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218616C>T , CM000676.2:g.93218616C>T | GRCh38 |
| NC_000014.8:g.93684962C>T , CM000676.1:g.93684962C>T | GRCh37 |
| NC_000014.7:g.92754715C>T | NCBI36 |
| NG_051089.1:g.16561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.691C>T MANE Select | ENSP00000013070.6:p.His231Tyr | |
| ENST00000013070.10:c.691C>T | ENSP00000013070.6:p.His231Tyr | |
| ENST00000416753.5:c.463C>T | ENSP00000391706.2:p.His155Tyr | |
| ENST00000553674.1:c.*392C>T | ENSP00000450470.1:n.*392C>T | |
| ENST00000553857.5:c.378+3335C>T | ||
| ENST00000556871.5:c.400C>T | ENSP00000451022.1:p.His134Tyr | |
| NM_175748.3:c.691C>T | NP_786924.2:p.His231Tyr | |
| NR_038150.1:n.793C>T | ||
| NM_175748.4:c.691C>T MANE Select | NP_786924.2:p.His231Tyr | |
| NR_038150.2:n.593C>T |