Linked Data
ClinVar Variation Id:
1980757
ClinVar RCV Id:
RCV002761578
dbSNP Id:
rs779494301
ExAC:
7:37927920 A / G
gnomAD v2:
7-37927920-A-G
gnomAD v3:
7-37888318-A-G
gnomAD v4:
7-37888318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37888318A>G , CM000669.2:g.37888318A>G | GRCh38 |
| NC_000007.13:g.37927920A>G , CM000669.1:g.37927920A>G | GRCh37 |
| NC_000007.12:g.37894445A>G | NCBI36 |
| NG_015893.1:g.44722A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.1289A>G (NME8) MANE Select | ENSP00000199447.4:p.Gln430Arg | |
| ENST00000199447.8:c.1289A>G (NME8) | ENSP00000199447.4:p.Gln430Arg | |
| ENST00000426106.1:c.*235A>G (NME8) | ENSP00000408841.1:n.*235A>G | |
| ENST00000440017.5:c.1289A>G (NME8) | ENSP00000397063.1:p.Gln430Arg | |
| ENST00000476620.1:c.-38+30973A>G (EPDR1) | ENSP00000425858.1:n.-38+30973A>G | |
| NM_016616.4:c.1289A>G (NME8) | NP_057700.3:p.Gln430Arg | |
| NM_016616.5:c.1289A>G (NME8) MANE Select | NP_057700.3:p.Gln430Arg |