Linked Data
dbSNP Id:
rs758760890
ExAC:
3:9880717 T / C
gnomAD v2:
3-9880717-T-C
gnomAD v3:
3-9839033-T-C
gnomAD v4:
3-9839033-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9839033T>C , CM000665.2:g.9839033T>C | GRCh38 |
| NC_000003.11:g.9880717T>C , CM000665.1:g.9880717T>C | GRCh37 |
| NC_000003.10:g.9855717T>C | NCBI36 |
| NG_054931.1:g.9986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383820.10:c.839A>G (RPUSD3) MANE Select | ENSP00000373331.6:p.Gln280Arg | |
| ENST00000433535.7:c.794A>G (RPUSD3) | ENSP00000398921.3:p.Gln265Arg | |
| ENST00000383820.9:c.863A>G (RPUSD3) | ENSP00000373331.5:p.Gln288Arg | |
| ENST00000423108.5:c.349A>G (RPUSD3) | ||
| ENST00000424438.5:c.629-826A>G (RPUSD3) | ENSP00000408693.1:n.629-826A>G | |
| ENST00000427174.5:c.863A>G (RPUSD3) | ||
| ENST00000433535.6:c.818A>G (RPUSD3) | ENSP00000398921.2:p.Gln273Arg | |
| ENST00000455274.5:c.918+9638T>C (TTLL3) | ENSP00000409632.1:n.918+9638T>C | |
| ENST00000464783.1:n.822A>G (RPUSD3) | ||
| ENST00000466141.1:n.681A>G (RPUSD3) | ||
| NM_001142547.1:c.818A>G (RPUSD3) | NP_001136019.1:p.Gln273Arg | |
| NM_173659.3:c.863A>G (RPUSD3) | NP_775930.2:p.Gln288Arg | |
| XM_011533627.1:c.725-826A>G (RPUSD3) | XP_011531929.1:n.725-826A>G | |
| NM_001142547.2:c.818A>G (RPUSD3) | NP_001136019.1:p.Gln273Arg | |
| NM_001351736.1:c.629-826A>G (RPUSD3) | NP_001338665.1:n.629-826A>G | |
| NM_001351737.1:c.725-826A>G (RPUSD3) | NP_001338666.1:n.725-826A>G | |
| NM_001351738.1:c.*21A>G (RPUSD3) | NP_001338667.1:n.*21A>G | |
| NM_173659.4:c.863A>G (RPUSD3) | NP_775930.2:p.Gln288Arg | |
| XM_024453471.1:c.863A>G (RPUSD3) | XP_024309239.1:p.Gln288Arg | |
| XM_024453472.1:c.724+1151A>G (RPUSD3) | XP_024309240.1:n.724+1151A>G | |
| NM_001351736.2:c.629-826A>G (RPUSD3) | NP_001338665.1:n.629-826A>G | |
| NM_001351736.3:c.629-826A>G (RPUSD3) | NP_001338665.1:n.629-826A>G | |
| NM_001142547.3:c.794A>G (RPUSD3) | NP_001136019.2:p.Gln265Arg | |
| NM_001351737.2:c.701-826A>G (RPUSD3) | NP_001338666.2:n.701-826A>G | |
| NM_001351738.2:c.*21A>G (RPUSD3) | NP_001338667.2:n.*21A>G | |
| NM_173659.5:c.839A>G (RPUSD3) MANE Select | NP_775930.3:p.Gln280Arg |