Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37894483G>A , CM000669.2:g.37894483G>A | GRCh38 |
| NC_000007.13:g.37934085G>A , CM000669.1:g.37934085G>A | GRCh37 |
| NC_000007.12:g.37900610G>A | NCBI36 |
| NG_015893.1:g.50887G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016616.5:c.1417G>A (NME8) MANE Select | NP_057700.3:p.Val473Ile |
| ENST00000199447.9:c.1417G>A (NME8) MANE Select | ENSP00000199447.4:p.Val473Ile |
| NM_016616.4:c.1417G>A (NME8) | NP_057700.3:p.Val473Ile |
| ENST00000199447.8:c.1417G>A (NME8) | ENSP00000199447.4:p.Val473Ile |
| ENST00000440017.5:c.1417G>A (NME8) | ENSP00000397063.1:p.Val473Ile |
| ENST00000476620.1:c.-38+37138G>A (EPDR1) | ENSP00000425858.1:n.-38+37138G>A |