Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077549A>T , CM000677.2:g.65077549A>T | GRCh38 |
| NC_000015.9:g.65369887A>T , CM000677.1:g.65369887A>T | GRCh37 |
| NC_000015.8:g.63156940A>T | NCBI36 |
| NG_021411.1:g.5734A>T , LRG_682:g.5734A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.734A>T MANE Select | ENSP00000388723.2:p.His245Leu | |
| ENST00000432196.3:c.734A>T | ENSP00000388723.2:p.His245Leu | |
| NM_001101362.2:c.734A>T , LRG_682t1:c.734A>T | NP_001094832.1:p.His245Leu | |
| NM_001101362.3:c.734A>T MANE Select | NP_001094832.1:p.His245Leu |