Linked Data
ClinVar Variation Id:
701506
dbSNP Id:
rs199848335
ExAC:
7:37890283 A / G
gnomAD v2:
7-37890283-A-G
gnomAD v3:
7-37850681-A-G
gnomAD v4:
7-37850681-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37850681A>G , CM000669.2:g.37850681A>G | GRCh38 |
| NC_000007.13:g.37890283A>G , CM000669.1:g.37890283A>G | GRCh37 |
| NC_000007.12:g.37856808A>G | NCBI36 |
| NG_015893.1:g.7085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.144A>G (NME8) MANE Select | ENSP00000199447.4:p.Leu48= | |
| ENST00000199447.8:c.144A>G (NME8) | ENSP00000199447.4:p.Leu48= | |
| ENST00000426106.1:c.33+382A>G (NME8) | ENSP00000408841.1:n.33+382A>G | |
| ENST00000440017.5:c.144A>G (NME8) | ENSP00000397063.1:p.Leu48= | |
| ENST00000444718.5:c.33+382A>G (NME8) | ENSP00000390596.1:n.33+382A>G | |
| ENST00000455500.5:c.33+382A>G (NME8) | ENSP00000390047.1:n.33+382A>G | |
| ENST00000476620.1:c.-109-6593A>G (EPDR1) | ENSP00000425858.1:n.-109-6593A>G | |
| NM_016616.4:c.144A>G (NME8) | NP_057700.3:p.Leu48= | |
| NM_016616.5:c.144A>G (NME8) MANE Select | NP_057700.3:p.Leu48= |