Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492565T>A , CM000673.2:g.13492565T>A | GRCh38 |
| NC_000011.9:g.13514112T>A , CM000673.1:g.13514112T>A | GRCh37 |
| NC_000011.8:g.13470688T>A | NCBI36 |
| NG_008962.1:g.8456A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.188A>T MANE Select | ENSP00000282091.1:p.His63Leu | |
| ENST00000282091.5:c.188A>T | ENSP00000282091.1:p.His63Leu | |
| ENST00000529816.1:c.188A>T | ENSP00000433208.1:p.His63Leu | |
| NM_000315.2:c.188A>T | NP_000306.1:p.His63Leu | |
| NM_000315.3:c.188A>T | NP_000306.1:p.His63Leu | |
| NM_001316352.1:c.284A>T | NP_001303281.1:p.His95Leu | |
| NM_000315.4:c.188A>T MANE Select | NP_000306.1:p.His63Leu | |
| NM_001316352.2:c.284A>T | NP_001303281.1:p.His95Leu |