Linked Data
ClinVar Variation Id:
356417
ClinVar RCV Id:
RCV000278235
dbSNP Id:
rs200231286
ExAC:
6:34385240 T / C
gnomAD v2:
6-34385240-T-C
gnomAD v3:
6-34417463-T-C
gnomAD v4:
6-34417463-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34417463T>C , CM000668.2:g.34417463T>C | GRCh38 |
| NC_000006.11:g.34385240T>C , CM000668.1:g.34385240T>C | GRCh37 |
| NC_000006.10:g.34493218T>C | NCBI36 |
| NG_023200.1:g.13637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344700.8:c.*122A>G (RPS10) | ENSP00000363169.1:n.*122A>G | |
| ENST00000605528.2:c.383+906A>G (RPS10-NUDT3) | ||
| ENST00000621356.3:c.*43A>G (RPS10) | ENSP00000481646.1:n.*43A>G | |
| ENST00000639725.1:c.456+906A>G (RPS10-NUDT3) | ENSP00000492441.1:n.456+906A>G | |
| ENST00000639877.1:c.456+906A>G (RPS10-NUDT3) | ENSP00000491891.1:n.456+906A>G | |
| ENST00000644700.1:c.*720A>G (RPS10) | ENSP00000495142.1:n.*720A>G | |
| ENST00000648437.1:c.*43A>G (RPS10) MANE Select | ENSP00000497917.1:n.*43A>G | |
| ENST00000326199.12:c.*43A>G (RPS10) | ENSP00000347271.6:n.*43A>G | |
| ENST00000344700.7:c.641A>G (RPS10) | ENSP00000363169.1:n.641A>G | |
| ENST00000464218.5:n.606A>G (RPS10) | ||
| ENST00000467531.5:n.768A>G (RPS10) | ||
| ENST00000494077.5:n.772A>G (RPS10) | ||
| ENST00000605528.1:c.456+906A>G (RPS10-NUDT3) | ENSP00000475027.1:n.456+906A>G | |
| NM_001014.4:c.*43A>G (RPS10) | NP_001005.1:n.*43A>G | |
| NM_001202470.2:c.456+906A>G (RPS10-NUDT3) | NP_001189399.1:n.456+906A>G | |
| NM_001203245.2:c.*43A>G (RPS10) | NP_001190174.1:n.*43A>G | |
| NM_001204091.1:c.*43A>G (RPS10) | NP_001191020.1:n.*43A>G | |
| NM_001014.5:c.*43A>G (RPS10) MANE Select | NP_001005.1:n.*43A>G | |
| NM_001203245.3:c.*43A>G (RPS10) | NP_001190174.1:n.*43A>G | |
| NM_001204091.2:c.*43A>G (RPS10) | NP_001191020.1:n.*43A>G | |
| NM_001202470.3:c.456+906A>G (RPS10-NUDT3) | NP_001189399.1:n.456+906A>G |