Linked Data
dbSNP Id:
rs202088564
ExAC:
3:9880826 C / T
gnomAD v2:
3-9880826-C-T
gnomAD v3:
3-9839142-C-T
gnomAD v4:
3-9839142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9839142C>T , CM000665.2:g.9839142C>T | GRCh38 |
| NC_000003.11:g.9880826C>T , CM000665.1:g.9880826C>T | GRCh37 |
| NC_000003.10:g.9855826C>T | NCBI36 |
| NG_054931.1:g.9877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383820.10:c.730G>A (RPUSD3) MANE Select | ENSP00000373331.6:p.Val244Ile | |
| ENST00000433535.7:c.685G>A (RPUSD3) | ENSP00000398921.3:p.Val229Ile | |
| ENST00000383820.9:c.754G>A (RPUSD3) | ENSP00000373331.5:p.Val252Ile | |
| ENST00000423108.5:c.240G>A (RPUSD3) | ||
| ENST00000424438.5:c.629-935G>A (RPUSD3) | ENSP00000408693.1:n.629-935G>A | |
| ENST00000427174.5:c.754G>A (RPUSD3) | ||
| ENST00000433535.6:c.709G>A (RPUSD3) | ENSP00000398921.2:p.Val237Ile | |
| ENST00000455274.5:c.918+9747C>T (TTLL3) | ENSP00000409632.1:n.918+9747C>T | |
| ENST00000464783.1:n.713G>A (RPUSD3) | ||
| ENST00000466141.1:n.572G>A (RPUSD3) | ||
| NM_001142547.1:c.709G>A (RPUSD3) | NP_001136019.1:p.Val237Ile | |
| NM_173659.3:c.754G>A (RPUSD3) | NP_775930.2:p.Val252Ile | |
| XM_011533627.1:c.725-935G>A (RPUSD3) | XP_011531929.1:n.725-935G>A | |
| NM_001142547.2:c.709G>A (RPUSD3) | NP_001136019.1:p.Val237Ile | |
| NM_001351736.1:c.629-935G>A (RPUSD3) | NP_001338665.1:n.629-935G>A | |
| NM_001351737.1:c.725-935G>A (RPUSD3) | NP_001338666.1:n.725-935G>A | |
| NM_001351738.1:c.782G>A (RPUSD3) | NP_001338667.1:p.Gly261Asp | |
| NM_173659.4:c.754G>A (RPUSD3) | NP_775930.2:p.Val252Ile | |
| XM_024453471.1:c.754G>A (RPUSD3) | XP_024309239.1:p.Val252Ile | |
| XM_024453472.1:c.724+1042G>A (RPUSD3) | XP_024309240.1:n.724+1042G>A | |
| NM_001351736.2:c.629-935G>A (RPUSD3) | NP_001338665.1:n.629-935G>A | |
| NM_001351736.3:c.629-935G>A (RPUSD3) | NP_001338665.1:n.629-935G>A | |
| NM_001142547.3:c.685G>A (RPUSD3) | NP_001136019.2:p.Val229Ile | |
| NM_001351737.2:c.701-935G>A (RPUSD3) | NP_001338666.2:n.701-935G>A | |
| NM_001351738.2:c.758G>A (RPUSD3) | NP_001338667.2:p.Gly253Asp | |
| NM_173659.5:c.730G>A (RPUSD3) MANE Select | NP_775930.3:p.Val244Ile |