Linked Data
ClinVar Variation Id:
7410
ClinVar RCV Id:
RCV000007835
dbSNP Id:
rs267607081
PubMed:
PMID:19208381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37978043T>G , CM000684.2:g.37978043T>G | GRCh38 |
| NC_000022.10:g.38374050T>G , CM000684.1:g.38374050T>G | GRCh37 |
| NC_000022.9:g.36703996T>G | NCBI36 |
| NG_007948.1:g.11490A>C , LRG_271:g.11490A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.737A>C (SOX10) | ENSP00000513596.1:p.Gln246Pro | |
| ENST00000690831.1:c.*143A>C (SOX10) | ENSP00000510381.1:n.*143A>C | |
| ENST00000396884.8:c.521A>C (SOX10) MANE Select | ENSP00000380093.2:p.Gln174Pro | |
| ENST00000360880.6:c.521A>C (SOX10) | ENSP00000354130.2:p.Gln174Pro | |
| ENST00000396884.6:c.521A>C (SOX10) | ENSP00000380093.2:p.Gln174Pro | |
| ENST00000405557.5:c.293+10873T>G (POLR2F) | ENSP00000384112.1:n.293+10873T>G | |
| ENST00000407936.5:c.294-8111T>G (POLR2F) | ENSP00000385725.1:n.294-8111T>G | |
| ENST00000427770.1:c.521A>C (SOX10) | ENSP00000414853.1:p.Gln174Pro | |
| ENST00000443002.5:c.*38+5733T>G (POLR2F) | ENSP00000406826.1:n.*38+5733T>G | |
| ENST00000446929.5:c.151A>C (SOX10) | ||
| NM_001301130.1:c.294-8111T>G (POLR2F) | NP_001288059.1:n.294-8111T>G | |
| NM_001301131.1:c.293+10873T>G (POLR2F) | NP_001288060.1:n.293+10873T>G | |
| NM_006941.3:c.521A>C , LRG_271t1:c.521A>C (SOX10) | NP_008872.1:p.Gln174Pro | |
| XR_938243.1:n.158+5733T>G | ||
| NM_001363825.1:c.*38+5733T>G (POLR2F) | NP_001350754.1:n.*38+5733T>G | |
| NM_001301130.2:c.294-8111T>G (POLR2F) | NP_001288059.1:n.294-8111T>G | |
| NM_001301131.2:c.293+10873T>G (POLR2F) | NP_001288060.1:n.293+10873T>G | |
| NM_006941.4:c.521A>C (SOX10) MANE Select | NP_008872.1:p.Gln174Pro |