Linked Data
ClinVar Variation Id:
536824
ClinVar RCV Id:
RCV000645500
dbSNP Id:
rs199920317
ExAC:
7:37890034 A / G
gnomAD v2:
7-37890034-A-G
gnomAD v3:
7-37850432-A-G
gnomAD v4:
7-37850432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37850432A>G , CM000669.2:g.37850432A>G | GRCh38 |
| NC_000007.13:g.37890034A>G , CM000669.1:g.37890034A>G | GRCh37 |
| NC_000007.12:g.37856559A>G | NCBI36 |
| NG_015893.1:g.6836A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.88A>G (NME8) MANE Select | ENSP00000199447.4:p.Thr30Ala | |
| ENST00000199447.8:c.88A>G (NME8) | ENSP00000199447.4:p.Thr30Ala | |
| ENST00000426106.1:c.33+133A>G (NME8) | ENSP00000408841.1:n.33+133A>G | |
| ENST00000440017.5:c.88A>G (NME8) | ENSP00000397063.1:p.Thr30Ala | |
| ENST00000444718.5:c.33+133A>G (NME8) | ENSP00000390596.1:n.33+133A>G | |
| ENST00000455500.5:c.33+133A>G (NME8) | ENSP00000390047.1:n.33+133A>G | |
| ENST00000476620.1:c.-109-6842A>G (EPDR1) | ENSP00000425858.1:n.-109-6842A>G | |
| NM_016616.4:c.88A>G (NME8) | NP_057700.3:p.Thr30Ala | |
| NM_016616.5:c.88A>G (NME8) MANE Select | NP_057700.3:p.Thr30Ala |