ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00150964 (NFE)
Genomes Max Group AF
0.00110465 (NFE)
Exomes Max Group AF
0.00152362 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1773026G>A , CM000678.2:g.1773026G>A | GRCh38 |
| NC_000016.9:g.1823027G>A , CM000678.1:g.1823027G>A | GRCh37 |
| NC_000016.8:g.1763028G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568449.7:c.-202G>A (EME2) MANE Select | ENSP00000457353.1:n.-202G>A | |
| ENST00000397375.7:c.94C>T (MRPS34) MANE Select | ENSP00000380531.3:p.Gln32Ter | |
| ENST00000568449.6:c.-202G>A (EME2) | ENSP00000457353.1:n.-202G>A | |
| ENST00000177742.7:c.94C>T (MRPS34) | ENSP00000177742.3:p.Gln32Ter | |
| ENST00000397375.6:c.94C>T (MRPS34) | ENSP00000380531.2:p.Gln32Ter | |
| ENST00000613089.1:c.94C>T (MRPS34) | ENSP00000479049.1:p.Gln32Ter | |
| NM_001300900.1:c.94C>T (MRPS34) | NP_001287829.1:p.Gln32Ter | |
| NM_023936.1:c.94C>T (MRPS34) | NP_076425.1:p.Gln32Ter | |
| XM_017023595.1:c.94C>T (MRPS34) | XP_016879084.1:p.Gln32Ter | |
| NM_001300900.2:c.94C>T (MRPS34) | NP_001287829.1:p.Gln32Ter | |
| NM_023936.2:c.94C>T (MRPS34) MANE Select | NP_076425.1:p.Gln32Ter | |
| NM_001257370.2:c.-202G>A (EME2) MANE Select | NP_001244299.1:n.-202G>A |