Linked Data
ClinVar Variation Id:
2745433
ClinVar RCV Id:
RCV003501922
dbSNP Id:
rs746168002
gnomAD v3:
7-37857325-C-G
gnomAD v4:
7-37857325-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37857325C>G , CM000669.2:g.37857325C>G | GRCh38 |
| NC_000007.13:g.37896927C>G , CM000669.1:g.37896927C>G | GRCh37 |
| NC_000007.12:g.37863452C>G | NCBI36 |
| NG_015893.1:g.13729C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.250C>G (NME8) MANE Select | ENSP00000199447.4:p.Pro84Ala | |
| ENST00000199447.8:c.250C>G (NME8) | ENSP00000199447.4:p.Pro84Ala | |
| ENST00000426106.1:c.85C>G (NME8) | ENSP00000408841.1:p.Pro29Ala | |
| ENST00000440017.5:c.250C>G (NME8) | ENSP00000397063.1:p.Pro84Ala | |
| ENST00000444718.5:c.85C>G (NME8) | ENSP00000390596.1:p.Pro29Ala | |
| ENST00000455500.5:c.85C>G (NME8) | ENSP00000390047.1:p.Pro29Ala | |
| ENST00000476620.1:c.-58C>G (EPDR1) | ENSP00000425858.1:n.-58C>G | |
| NM_016616.4:c.250C>G (NME8) | NP_057700.3:p.Pro84Ala | |
| NM_016616.5:c.250C>G (NME8) MANE Select | NP_057700.3:p.Pro84Ala |