Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675823A>T , CM000685.2:g.38675823A>T | GRCh38 |
| NC_000023.10:g.38535077A>T , CM000685.1:g.38535077A>T | GRCh37 |
| NC_000023.9:g.38420021A>T | NCBI36 |
| NG_009160.1:g.119347A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.560A>T MANE Select | ENSP00000367743.2:p.His187Leu | |
| ENST00000286824.6:c.611A>T | ENSP00000286824.6:p.His204Leu | |
| ENST00000378482.6:c.560A>T | ENSP00000367743.2:p.His187Leu | |
| ENST00000419600.3:n.504A>T | ||
| ENST00000465127.1:c.650A>T | ENSP00000417050.1:p.His217Leu | |
| ENST00000471410.5:c.*586A>T | ENSP00000419290.1:n.*586A>T | |
| ENST00000475216.5:c.*553A>T | ENSP00000418586.1:n.*553A>T | |
| NM_004615.3:c.560A>T | NP_004606.2:p.His187Leu | |
| NM_004615.4:c.560A>T MANE Select | NP_004606.2:p.His187Leu |