Linked Data
ClinVar Variation Id:
6185
ClinVar RCV Id:
RCV000006562
dbSNP Id:
rs267607021
PubMed:
PMID:20116044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34425219C>T , CM000668.2:g.34425219C>T | GRCh38 |
| NC_000006.11:g.34392996C>T , CM000668.1:g.34392996C>T | GRCh37 |
| NC_000006.10:g.34500974C>T | NCBI36 |
| NG_023200.1:g.5881G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344700.8:c.3G>A (RPS10) | ENSP00000363169.1:p.Met1Ile | |
| ENST00000494077.6:c.3G>A (RPS10-NUDT3) | ENSP00000495405.1:p.Met1Ile | |
| ENST00000621356.3:c.3G>A (RPS10) | ENSP00000481646.1:p.Met1Ile | |
| ENST00000639725.1:c.3G>A (RPS10-NUDT3) | ENSP00000492441.1:p.Met1Ile | |
| ENST00000639877.1:c.3G>A (RPS10-NUDT3) | ENSP00000491891.1:p.Met1Ile | |
| ENST00000644393.1:c.3G>A (RPS10) | ENSP00000496022.1:p.Met1Ile | |
| ENST00000644700.1:c.3G>A (RPS10) | ENSP00000495142.1:p.Met1Ile | |
| ENST00000648437.1:c.3G>A (RPS10) MANE Select | ENSP00000497917.1:p.Met1Ile | |
| ENST00000326199.12:c.3G>A (RPS10) | ENSP00000347271.6:p.Met1Ile | |
| ENST00000344700.7:c.3G>A (RPS10) | ENSP00000363169.1:p.Met1Ile | |
| ENST00000464218.5:n.68G>A (RPS10) | ||
| ENST00000467531.5:n.230G>A (RPS10) | ||
| ENST00000480942.1:n.22G>A (RPS10) | ||
| ENST00000494077.5:n.234G>A (RPS10) | ||
| ENST00000605528.1:c.3G>A (RPS10-NUDT3) | ENSP00000475027.1:p.Met1Ile | |
| ENST00000621356.2:c.3G>A (RPS10) | ENSP00000481646.1:p.Met1Ile | |
| NM_001014.4:c.3G>A (RPS10) | NP_001005.1:p.Met1Ile | |
| NM_001202470.2:c.3G>A (RPS10-NUDT3) | NP_001189399.1:p.Met1Ile | |
| NM_001203245.2:c.3G>A (RPS10) | NP_001190174.1:p.Met1Ile | |
| NM_001204091.1:c.3G>A (RPS10) | NP_001191020.1:p.Met1Ile | |
| NM_001014.5:c.3G>A (RPS10) MANE Select | NP_001005.1:p.Met1Ile | |
| NM_001203245.3:c.3G>A (RPS10) | NP_001190174.1:p.Met1Ile | |
| NM_001204091.2:c.3G>A (RPS10) | NP_001191020.1:p.Met1Ile | |
| NM_001202470.3:c.3G>A (RPS10-NUDT3) | NP_001189399.1:p.Met1Ile |