Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184077C>T , CM000667.2:g.67184077C>T | GRCh38 |
| NC_000005.9:g.66479905C>T , CM000667.1:g.66479905C>T | GRCh37 |
| NC_000005.8:g.66515661C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.766G>A MANE Select | ENSP00000256447.4:p.Glu256Lys | |
| NM_005582.2:c.766G>A | NP_005573.2:p.Glu256Lys | |
| XM_005248504.3:c.727G>A | XP_005248561.1:p.Glu243Lys | |
| XM_005248504.4:c.727G>A | XP_005248561.1:p.Glu243Lys | |
| NM_005582.3:c.766G>A MANE Select | NP_005573.2:p.Glu256Lys |