Linked Data
ClinVar Variation Id:
65483
ClinVar RCV Id:
RCV000055673
dbSNP Id:
rs397515457
PubMed:
PMID:23643381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37983783A>C , CM000684.2:g.37983783A>C | GRCh38 |
| NC_000022.10:g.38379790A>C , CM000684.1:g.38379790A>C | GRCh37 |
| NC_000022.9:g.36709736A>C | NCBI36 |
| NG_007948.1:g.5750T>G , LRG_271:g.5750T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.218T>G (SOX10) | ENSP00000513596.1:p.Met73Arg | |
| ENST00000690831.1:c.2T>G (SOX10) | ENSP00000510381.1:p.Met1Arg | |
| ENST00000396884.8:c.2T>G (SOX10) MANE Select | ENSP00000380093.2:p.Met1Arg | |
| ENST00000652356.1:n.291T>G (SOX10) | ||
| ENST00000360880.6:c.2T>G (SOX10) | ENSP00000354130.2:p.Met1Arg | |
| ENST00000396884.6:c.2T>G (SOX10) | ENSP00000380093.2:p.Met1Arg | |
| ENST00000405557.5:c.293+16613A>C (POLR2F) | ENSP00000384112.1:n.293+16613A>C | |
| ENST00000407936.5:c.294-2371A>C (POLR2F) | ENSP00000385725.1:n.294-2371A>C | |
| ENST00000427770.1:c.2T>G (SOX10) | ENSP00000414853.1:p.Met1Arg | |
| ENST00000443002.5:c.*39-1269A>C (POLR2F) | ENSP00000406826.1:n.*39-1269A>C | |
| ENST00000470555.1:n.70+556T>G (SOX10) | ||
| NM_001301130.1:c.294-2371A>C (POLR2F) | NP_001288059.1:n.294-2371A>C | |
| NM_001301131.1:c.293+16613A>C (POLR2F) | NP_001288060.1:n.293+16613A>C | |
| NM_006941.3:c.2T>G , LRG_271t1:c.2T>G (SOX10) | NP_008872.1:p.Met1Arg | |
| XR_938243.1:n.158+11473A>C | ||
| NM_001363825.1:c.*38+11473A>C (POLR2F) | NP_001350754.1:n.*38+11473A>C | |
| NM_001301130.2:c.294-2371A>C (POLR2F) | NP_001288059.1:n.294-2371A>C | |
| NM_001301131.2:c.293+16613A>C (POLR2F) | NP_001288060.1:n.293+16613A>C | |
| NM_006941.4:c.2T>G (SOX10) MANE Select | NP_008872.1:p.Met1Arg |