Linked Data
dbSNP Id:
rs1172421399
gnomAD v2:
3-9880681-C-T
gnomAD v3:
3-9838997-C-T
gnomAD v4:
3-9838997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9838997C>T , CM000665.2:g.9838997C>T | GRCh38 |
| NC_000003.11:g.9880681C>T , CM000665.1:g.9880681C>T | GRCh37 |
| NC_000003.10:g.9855681C>T | NCBI36 |
| NG_054931.1:g.10022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383820.10:c.840+35G>A (RPUSD3) MANE Select | ENSP00000373331.6:n.840+35G>A | |
| ENST00000433535.7:c.795+35G>A (RPUSD3) | ENSP00000398921.3:n.795+35G>A | |
| ENST00000383820.9:c.864+35G>A (RPUSD3) | ENSP00000373331.5:n.864+35G>A | |
| ENST00000423108.5:c.385G>A (RPUSD3) | ||
| ENST00000424438.5:c.629-790G>A (RPUSD3) | ENSP00000408693.1:n.629-790G>A | |
| ENST00000427174.5:c.864+35G>A (RPUSD3) | ||
| ENST00000433535.6:c.819+35G>A (RPUSD3) | ENSP00000398921.2:n.819+35G>A | |
| ENST00000455274.5:c.918+9602C>T (TTLL3) | ENSP00000409632.1:n.918+9602C>T | |
| ENST00000464783.1:n.823+35G>A (RPUSD3) | ||
| ENST00000466141.1:n.682+35G>A (RPUSD3) | ||
| NM_001142547.1:c.819+35G>A (RPUSD3) | NP_001136019.1:n.819+35G>A | |
| NM_173659.3:c.864+35G>A (RPUSD3) | NP_775930.2:n.864+35G>A | |
| XM_011533627.1:c.725-790G>A (RPUSD3) | XP_011531929.1:n.725-790G>A | |
| NM_001142547.2:c.819+35G>A (RPUSD3) | NP_001136019.1:n.819+35G>A | |
| NM_001351736.1:c.629-790G>A (RPUSD3) | NP_001338665.1:n.629-790G>A | |
| NM_001351737.1:c.725-790G>A (RPUSD3) | NP_001338666.1:n.725-790G>A | |
| NM_001351738.1:c.*22+35G>A (RPUSD3) | NP_001338667.1:n.*22+35G>A | |
| NM_173659.4:c.864+35G>A (RPUSD3) | NP_775930.2:n.864+35G>A | |
| XM_024453471.1:c.899G>A (RPUSD3) | XP_024309239.1:p.Gly300Glu | |
| XM_024453472.1:c.724+1187G>A (RPUSD3) | XP_024309240.1:n.724+1187G>A | |
| NM_001351736.2:c.629-790G>A (RPUSD3) | NP_001338665.1:n.629-790G>A | |
| NM_001351736.3:c.629-790G>A (RPUSD3) | NP_001338665.1:n.629-790G>A | |
| NM_001142547.3:c.795+35G>A (RPUSD3) | NP_001136019.2:n.795+35G>A | |
| NM_001351737.2:c.701-790G>A (RPUSD3) | NP_001338666.2:n.701-790G>A | |
| NM_001351738.2:c.*22+35G>A (RPUSD3) | NP_001338667.2:n.*22+35G>A | |
| NM_173659.5:c.840+35G>A (RPUSD3) MANE Select | NP_775930.3:n.840+35G>A |