Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022678T>A , CM000679.2:g.5022678T>A | GRCh38 |
| NC_000017.10:g.4925973T>A , CM000679.1:g.4925973T>A | GRCh37 |
| NC_000017.9:g.4866697T>A | NCBI36 |
| NG_034137.1:g.29731T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2597T>A MANE Select | ENSP00000320821.5:p.Leu866His | |
| ENST00000320785.9:c.2597T>A | ENSP00000320821.5:p.Leu866His | |
| NM_006612.5:c.2597T>A | NP_006603.2:p.Leu866His | |
| XM_005256424.1:c.2597T>A | XP_005256481.1:p.Leu866His | |
| XM_005256424.2:c.2597T>A | XP_005256481.1:p.Leu866His | |
| NM_006612.6:c.2597T>A MANE Select | NP_006603.2:p.Leu866His |