Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433901T>A , CM000674.2:g.52433901T>A | GRCh38 |
| NC_000012.11:g.52827685T>A , CM000674.1:g.52827685T>A | GRCh37 |
| NC_000012.10:g.51113952T>A | NCBI36 |
| NG_008403.1:g.5426A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.404A>T MANE Select | ENSP00000252245.5:p.His135Leu | |
| ENST00000252245.5:c.404A>T | ENSP00000252245.5:p.His135Leu | |
| NM_004693.2:c.404A>T | NP_004684.2:p.His135Leu | |
| NM_004693.3:c.404A>T MANE Select | NP_004684.2:p.His135Leu |