Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949217A>T , CM000672.2:g.94949217A>T | GRCh38 |
| NC_000010.10:g.96708974A>T , CM000672.1:g.96708974A>T | GRCh37 |
| NC_000010.9:g.96698964A>T | NCBI36 |
| NG_008385.1:g.15560A>T | |
| NG_008385.2:g.16060A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.752A>T MANE Select | NP_000762.2:p.His251Leu |
| ENST00000260682.8:c.752A>T MANE Select | ENSP00000260682.6:p.His251Leu |
| NM_000771.3:c.752A>T | NP_000762.2:p.His251Leu |
| ENST00000260682.6:c.752A>T | ENSP00000260682.6:p.His251Leu |
| ENST00000473496.1:n.523A>T | |
| ENST00000643112.1:c.752A>T | ENSP00000496202.1:p.His251Leu |