Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218558G>T , CM000676.2:g.93218558G>T | GRCh38 |
| NC_000014.8:g.93684904G>T , CM000676.1:g.93684904G>T | GRCh37 |
| NC_000014.7:g.92754657G>T | NCBI36 |
| NG_051089.1:g.16503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.633G>T MANE Select | ENSP00000013070.6:p.Leu211Phe | |
| ENST00000013070.10:c.633G>T | ENSP00000013070.6:p.Leu211Phe | |
| ENST00000416753.5:c.405G>T | ENSP00000391706.2:p.Leu135Phe | |
| ENST00000553674.1:c.*334G>T | ENSP00000450470.1:n.*334G>T | |
| ENST00000553857.5:c.378+3277G>T | ||
| ENST00000556871.5:c.342G>T | ENSP00000451022.1:p.Leu114Phe | |
| ENST00000557048.1:n.542G>T | ||
| NM_175748.3:c.633G>T | NP_786924.2:p.Leu211Phe | |
| NR_038150.1:n.735G>T | ||
| NM_175748.4:c.633G>T MANE Select | NP_786924.2:p.Leu211Phe | |
| NR_038150.2:n.535G>T |