gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79865522 (EAS)
Genomes Max Group AF
0.79865522 (EAS)
Exomes Max Group AF
0.43136767 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41182635G>C , CM000682.2:g.41182635G>C | GRCh38 |
| NC_000020.10:g.39811275G>C , CM000682.1:g.39811275G>C | GRCh37 |
| NC_000020.9:g.39244689G>C | NCBI36 |
| NG_046923.1:g.139984C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683867.1:c.*2556C>G (ZHX3) MANE Select | ENSP00000506788.1:n.*2556C>G | |
| ENST00000309060.7:c.*2556C>G (ZHX3) | ENSP00000312222.4:n.*2556C>G | |
| ENST00000421422.1:c.4651C>G (ZHX3) | ||
| ENST00000423733.3:n.210-296G>C (PLCG1) | ||
| ENST00000559234.5:c.*2556C>G (ZHX3) | ENSP00000452965.1:n.*2556C>G | |
| ENST00000560364.5:c.*2291C>G (ZHX3) | ENSP00000453647.2:n.*2291C>G | |
| ENST00000599785.5:c.822-296G>C (PLCG1) | ENSP00000468958.1:n.822-296G>C | |
| ENST00000607954.1:c.947-296G>C (PLCG1) | ENSP00000476454.1:n.947-296G>C | |
| ENST00000608689.5:n.911-296G>C (PLCG1) | ||
| ENST00000608885.5:c.807-296G>C (PLCG1) | ENSP00000476432.1:n.807-296G>C | |
| ENST00000609257.5:c.927-296G>C (PLCG1) | ||
| ENST00000609821.5:n.541-296G>C (PLCG1) | ||
| ENST00000630423.1:n.131-296G>C (PLCG1) | ||
| NM_015035.3:c.*2556C>G (ZHX3) | NP_055850.1:n.*2556C>G | |
| XM_005260341.3:c.*2291C>G (ZHX3) | XP_005260398.1:n.*2291C>G | |
| XM_005260343.3:c.*2616C>G (ZHX3) | XP_005260400.1:n.*2616C>G | |
| XM_006723747.2:c.*2616C>G (ZHX3) | XP_006723810.1:n.*2616C>G | |
| XM_006723748.2:c.*2616C>G (ZHX3) | XP_006723811.1:n.*2616C>G | |
| XM_006723749.2:c.*2616C>G (ZHX3) | XP_006723812.1:n.*2616C>G | |
| XM_011528701.1:c.*2616C>G (ZHX3) | XP_011527003.1:n.*2616C>G | |
| XM_011528702.1:c.*2616C>G (ZHX3) | XP_011527004.1:n.*2616C>G | |
| XM_011528703.1:c.*2616C>G (ZHX3) | XP_011527005.1:n.*2616C>G | |
| XM_011528705.1:c.*2616C>G (ZHX3) | XP_011527007.1:n.*2616C>G | |
| XM_011528706.1:c.*2616C>G (ZHX3) | XP_011527008.1:n.*2616C>G | |
| XM_011528707.1:c.*2616C>G (ZHX3) | XP_011527009.1:n.*2616C>G | |
| XM_011528708.1:c.*2616C>G (ZHX3) | XP_011527010.1:n.*2616C>G | |
| XM_011528709.1:c.*2616C>G (ZHX3) | XP_011527011.1:n.*2616C>G | |
| XM_011528710.1:c.*2616C>G (ZHX3) | XP_011527012.1:n.*2616C>G | |
| XM_011528711.1:c.*2616C>G (ZHX3) | XP_011527013.1:n.*2616C>G | |
| XM_011528712.1:c.*2616C>G (ZHX3) | XP_011527014.1:n.*2616C>G | |
| XM_011528713.1:c.*2616C>G (ZHX3) | XP_011527015.1:n.*2616C>G | |
| XM_011528714.1:c.*2616C>G (ZHX3) | XP_011527016.1:n.*2616C>G | |
| XM_011528715.1:c.*2616C>G (ZHX3) | XP_011527017.1:n.*2616C>G | |
| XM_011528716.1:c.*2616C>G (ZHX3) | XP_011527018.1:n.*2616C>G | |
| XM_011528717.1:c.*2616C>G (ZHX3) | XP_011527019.1:n.*2616C>G | |
| XM_011528718.1:c.*2616C>G (ZHX3) | XP_011527020.1:n.*2616C>G | |
| XM_011528719.1:c.*2616C>G (ZHX3) | XP_011527021.1:n.*2616C>G | |
| XM_011528720.1:c.*2556C>G (ZHX3) | XP_011527022.1:n.*2556C>G | |
| XM_005260341.4:c.*2291C>G (ZHX3) | XP_005260398.1:n.*2291C>G | |
| XM_017027737.1:c.*2556C>G (ZHX3) | XP_016883226.1:n.*2556C>G | |
| XM_017027738.1:c.*2556C>G (ZHX3) | XP_016883227.1:n.*2556C>G | |
| XM_024451861.1:c.*2556C>G (ZHX3) | XP_024307629.1:n.*2556C>G | |
| XM_024451862.1:c.*2556C>G (ZHX3) | XP_024307630.1:n.*2556C>G | |
| NM_015035.4:c.*2556C>G (ZHX3) | NP_055850.1:n.*2556C>G | |
| NM_001384315.1:c.*2556C>G (ZHX3) | NP_001371244.1:n.*2556C>G | |
| NM_001384316.1:c.*2556C>G (ZHX3) | NP_001371245.1:n.*2556C>G | |
| NM_001384317.1:c.*2556C>G (ZHX3) MANE Select | NP_001371246.1:n.*2556C>G | |
| NM_001384318.1:c.*2556C>G (ZHX3) | NP_001371247.1:n.*2556C>G | |
| NM_001384319.1:c.*2556C>G (ZHX3) | NP_001371248.1:n.*2556C>G | |
| NM_001384320.1:c.*2556C>G (ZHX3) | NP_001371249.1:n.*2556C>G | |
| NM_001384321.1:c.*2556C>G (ZHX3) | NP_001371250.1:n.*2556C>G | |
| NM_001384322.1:c.*2556C>G (ZHX3) | NP_001371251.1:n.*2556C>G | |
| NM_001384323.1:c.*2556C>G (ZHX3) | NP_001371252.1:n.*2556C>G | |
| NM_001384324.1:c.*2291C>G (ZHX3) | NP_001371253.1:n.*2291C>G | |
| NM_001384325.1:c.*2616C>G (ZHX3) | NP_001371254.1:n.*2616C>G |