Linked Data
ClinVar Variation Id:
463371
dbSNP Id:
rs781484971
ExAC:
6:34392507 C / T
gnomAD v2:
6-34392507-C-T
gnomAD v3:
6-34424730-C-T
gnomAD v4:
6-34424730-C-T
COSMIC:
COSM1319100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34424730C>T , CM000668.2:g.34424730C>T | GRCh38 |
| NC_000006.11:g.34392507C>T , CM000668.1:g.34392507C>T | GRCh37 |
| NC_000006.10:g.34500485C>T | NCBI36 |
| NG_023200.1:g.6370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344700.8:c.261G>A (RPS10) | ENSP00000363169.1:p.Pro87= | |
| ENST00000494077.6:c.261G>A (RPS10-NUDT3) | ENSP00000495405.1:p.Pro87= | |
| ENST00000605528.2:c.188G>A (RPS10-NUDT3) | ||
| ENST00000621356.3:c.261G>A (RPS10) | ENSP00000481646.1:p.Pro87= | |
| ENST00000639725.1:c.261G>A (RPS10-NUDT3) | ENSP00000492441.1:p.Pro87= | |
| ENST00000639877.1:c.261G>A (RPS10-NUDT3) | ENSP00000491891.1:p.Pro87= | |
| ENST00000644393.1:c.261G>A (RPS10) | ENSP00000496022.1:p.Pro87= | |
| ENST00000644700.1:c.261G>A (RPS10) | ENSP00000495142.1:p.Pro87= | |
| ENST00000648437.1:c.261G>A (RPS10) MANE Select | ENSP00000497917.1:p.Pro87= | |
| ENST00000326199.12:c.261G>A (RPS10) | ENSP00000347271.6:p.Pro87= | |
| ENST00000344700.7:c.261G>A (RPS10) | ENSP00000363169.1:p.Pro87= | |
| ENST00000464218.5:n.326G>A (RPS10) | ||
| ENST00000467531.5:n.488G>A (RPS10) | ||
| ENST00000480942.1:n.280G>A (RPS10) | ||
| ENST00000494077.5:n.492G>A (RPS10) | ||
| ENST00000605528.1:c.261G>A (RPS10-NUDT3) | ENSP00000475027.1:p.Pro87= | |
| ENST00000621356.2:c.261G>A (RPS10) | ENSP00000481646.1:p.Pro87= | |
| NM_001014.4:c.261G>A (RPS10) | NP_001005.1:p.Pro87= | |
| NM_001202470.2:c.261G>A (RPS10-NUDT3) | NP_001189399.1:p.Pro87= | |
| NM_001203245.2:c.261G>A (RPS10) | NP_001190174.1:p.Pro87= | |
| NM_001204091.1:c.261G>A (RPS10) | NP_001191020.1:p.Pro87= | |
| NM_001014.5:c.261G>A (RPS10) MANE Select | NP_001005.1:p.Pro87= | |
| NM_001203245.3:c.261G>A (RPS10) | NP_001190174.1:p.Pro87= | |
| NM_001204091.2:c.261G>A (RPS10) | NP_001191020.1:p.Pro87= | |
| NM_001202470.3:c.261G>A (RPS10-NUDT3) | NP_001189399.1:p.Pro87= |