Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154641A>T , CM000668.2:g.3154641A>T | GRCh38 |
| NC_000006.11:g.3154875A>T , CM000668.1:g.3154875A>T | GRCh37 |
| NC_000006.10:g.3099874A>T | NCBI36 |
| NG_042223.1:g.7909T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.560T>A MANE Select | ENSP00000369703.2:p.Leu187His | |
| ENST00000679400.1:n.616T>A | ||
| ENST00000679907.1:n.948T>A | ||
| ENST00000680036.1:n.1342T>A | ||
| ENST00000680967.1:n.1650T>A | ||
| ENST00000333628.3:c.560T>A | ENSP00000369703.2:p.Leu187His | |
| ENST00000489942.1:n.755T>A | ||
| NM_001069.2:c.560T>A | NP_001060.1:p.Leu187His | |
| NM_001310315.1:c.305T>A | NP_001297244.1:p.Leu102His | |
| NM_001069.3:c.560T>A MANE Select | NP_001060.1:p.Leu187His | |
| NM_001310315.2:c.305T>A | NP_001297244.1:p.Leu102His |