Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455865T>A , CM000679.2:g.7455865T>A | GRCh38 |
| NC_000017.10:g.7359184T>A , CM000679.1:g.7359184T>A | GRCh37 |
| NC_000017.9:g.7299908T>A | NCBI36 |
| NG_008026.1:g.15779T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1289T>A MANE Select | ENSP00000304290.2:p.Leu430His | |
| ENST00000306071.6:c.1289T>A | ENSP00000304290.2:p.Leu430His | |
| ENST00000536404.6:c.1073T>A | ENSP00000439209.2:p.Leu358His | |
| ENST00000575379.1:c.-104T>A | ENSP00000461751.1:n.-104T>A | |
| ENST00000576360.1:c.926T>A | ENSP00000459092.1:p.Leu309His | |
| NM_000747.2:c.1289T>A | NP_000738.2:p.Leu430His | |
| NM_000747.3:c.1289T>A MANE Select | NP_000738.2:p.Leu430His |