Linked Data
ClinVar Variation Id:
225005
ClinVar RCV Id:
RCV000210730
dbSNP Id:
rs142932960
ExAC:
3:9880832 G / A
gnomAD v2:
3-9880832-G-A
gnomAD v3:
3-9839148-G-A
gnomAD v4:
3-9839148-G-A
PubMed:
PMID:25356970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9839148G>A , CM000665.2:g.9839148G>A | GRCh38 |
| NC_000003.11:g.9880832G>A , CM000665.1:g.9880832G>A | GRCh37 |
| NC_000003.10:g.9855832G>A | NCBI36 |
| NG_054931.1:g.9871C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383820.10:c.724C>T (RPUSD3) MANE Select | ENSP00000373331.6:p.His242Tyr | |
| ENST00000433535.7:c.679C>T (RPUSD3) | ENSP00000398921.3:p.His227Tyr | |
| ENST00000383820.9:c.748C>T (RPUSD3) | ENSP00000373331.5:p.His250Tyr | |
| ENST00000423108.5:c.234C>T (RPUSD3) | ||
| ENST00000424438.5:c.629-941C>T (RPUSD3) | ENSP00000408693.1:n.629-941C>T | |
| ENST00000427174.5:c.748C>T (RPUSD3) | ||
| ENST00000433535.6:c.703C>T (RPUSD3) | ENSP00000398921.2:p.His235Tyr | |
| ENST00000455274.5:c.918+9753G>A (TTLL3) | ENSP00000409632.1:n.918+9753G>A | |
| ENST00000464783.1:n.707C>T (RPUSD3) | ||
| ENST00000466141.1:n.566C>T (RPUSD3) | ||
| NM_001142547.1:c.703C>T (RPUSD3) | NP_001136019.1:p.His235Tyr | |
| NM_173659.3:c.748C>T (RPUSD3) | NP_775930.2:p.His250Tyr | |
| XM_011533627.1:c.725-941C>T (RPUSD3) | XP_011531929.1:n.725-941C>T | |
| NM_001142547.2:c.703C>T (RPUSD3) | NP_001136019.1:p.His235Tyr | |
| NM_001351736.1:c.629-941C>T (RPUSD3) | NP_001338665.1:n.629-941C>T | |
| NM_001351737.1:c.725-941C>T (RPUSD3) | NP_001338666.1:n.725-941C>T | |
| NM_001351738.1:c.776C>T (RPUSD3) | NP_001338667.1:p.Ala259Val | |
| NM_173659.4:c.748C>T (RPUSD3) | NP_775930.2:p.His250Tyr | |
| XM_024453471.1:c.748C>T (RPUSD3) | XP_024309239.1:p.His250Tyr | |
| XM_024453472.1:c.724+1036C>T (RPUSD3) | XP_024309240.1:n.724+1036C>T | |
| NM_001351736.2:c.629-941C>T (RPUSD3) | NP_001338665.1:n.629-941C>T | |
| NM_001351736.3:c.629-941C>T (RPUSD3) | NP_001338665.1:n.629-941C>T | |
| NM_001142547.3:c.679C>T (RPUSD3) | NP_001136019.2:p.His227Tyr | |
| NM_001351737.2:c.701-941C>T (RPUSD3) | NP_001338666.2:n.701-941C>T | |
| NM_001351738.2:c.752C>T (RPUSD3) | NP_001338667.2:p.Ala251Val | |
| NM_173659.5:c.724C>T (RPUSD3) MANE Select | NP_775930.3:p.His242Tyr |