Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535792T>A , CM000663.2:g.1535792T>A | GRCh38 |
| NC_000001.10:g.1471172T>A , CM000663.1:g.1471172T>A | GRCh37 |
| NC_000001.9:g.1461035T>A | NCBI36 |
| NG_041807.1:g.9569A>T | |
| NG_053035.1:g.28650T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.170A>T MANE Select | ENSP00000368007.4:p.His57Leu | |
| ENST00000378733.8:c.170A>T | ENSP00000368007.4:p.His57Leu | |
| ENST00000425828.1:c.170A>T | ENSP00000400311.1:p.His57Leu | |
| NM_001114748.1:c.170A>T | NP_001108220.1:p.His57Leu | |
| NM_001114748.2:c.170A>T MANE Select | NP_001108220.1:p.His57Leu |