Linked Data
ClinVar Variation Id:
1403932
ClinVar RCV Id:
RCV001925492
dbSNP Id:
rs2131937781
gnomAD v4:
7-37850702-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37850702A>T , CM000669.2:g.37850702A>T | GRCh38 |
| NC_000007.13:g.37890304A>T , CM000669.1:g.37890304A>T | GRCh37 |
| NC_000007.12:g.37856829A>T | NCBI36 |
| NG_015893.1:g.7106A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.165A>T (NME8) MANE Select | ENSP00000199447.4:p.Glu55Asp | |
| ENST00000199447.8:c.165A>T (NME8) | ENSP00000199447.4:p.Glu55Asp | |
| ENST00000426106.1:c.33+403A>T (NME8) | ENSP00000408841.1:n.33+403A>T | |
| ENST00000440017.5:c.165A>T (NME8) | ENSP00000397063.1:p.Glu55Asp | |
| ENST00000444718.5:c.33+403A>T (NME8) | ENSP00000390596.1:n.33+403A>T | |
| ENST00000455500.5:c.33+403A>T (NME8) | ENSP00000390047.1:n.33+403A>T | |
| ENST00000476620.1:c.-109-6572A>T (EPDR1) | ENSP00000425858.1:n.-109-6572A>T | |
| NM_016616.4:c.165A>T (NME8) | NP_057700.3:p.Glu55Asp | |
| NM_016616.5:c.165A>T (NME8) MANE Select | NP_057700.3:p.Glu55Asp |