gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19943518 (MID)
Genomes Max Group AF
0.182101 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37898820A>G , CM000669.2:g.37898820A>G | GRCh38 |
| NC_000007.13:g.37938422A>G , CM000669.1:g.37938422A>G | GRCh37 |
| NC_000007.12:g.37904947A>G | NCBI36 |
| NG_015893.1:g.55224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199447.9:c.*16-1424A>G (NME8) MANE Select | ENSP00000199447.4:n.*16-1424A>G | |
| ENST00000199447.8:c.*16-1424A>G (NME8) | ENSP00000199447.4:n.*16-1424A>G | |
| ENST00000476435.1:n.292-1424A>G (NME8) | ||
| ENST00000476620.1:c.-38+41475A>G (EPDR1) | ENSP00000425858.1:n.-38+41475A>G | |
| NM_016616.4:c.*16-1424A>G (NME8) | NP_057700.3:n.*16-1424A>G | |
| NM_016616.5:c.*16-1424A>G (NME8) MANE Select | NP_057700.3:n.*16-1424A>G |