Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37867822C>A , CM000669.2:g.37867822C>A | GRCh38 |
| NC_000007.13:g.37907424C>A , CM000669.1:g.37907424C>A | GRCh37 |
| NC_000007.12:g.37873949C>A | NCBI36 |
| NG_015893.1:g.24226C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016616.5:c.742C>A (NME8) MANE Select | NP_057700.3:p.Pro248Thr |
| ENST00000199447.9:c.742C>A (NME8) MANE Select | ENSP00000199447.4:p.Pro248Thr |
| NM_016616.4:c.742C>A (NME8) | NP_057700.3:p.Pro248Thr |
| ENST00000199447.8:c.742C>A (NME8) | ENSP00000199447.4:p.Pro248Thr |
| ENST00000426106.1:c.105+10477C>A (NME8) | ENSP00000408841.1:n.105+10477C>A |
| ENST00000440017.5:c.742C>A (NME8) | ENSP00000397063.1:p.Pro248Thr |
| ENST00000476620.1:c.-38+10477C>A (EPDR1) | ENSP00000425858.1:n.-38+10477C>A |