Linked Data
ClinVar Variation Id:
599421
ClinVar RCV Id:
RCV000736047
dbSNP Id:
rs760539449
ExAC:
22:38370071 T / C
gnomAD v2:
22-38370071-T-C
gnomAD v3:
22-37974064-T-C
gnomAD v4:
22-37974064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37974064T>C , CM000684.2:g.37974064T>C | GRCh38 |
| NC_000022.10:g.38370071T>C , CM000684.1:g.38370071T>C | GRCh37 |
| NC_000022.9:g.36700017T>C | NCBI36 |
| NG_007948.1:g.15469A>G , LRG_271:g.15469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.1048A>G (SOX10) | ENSP00000513596.1:p.Ile350Val | |
| ENST00000690831.1:c.*454A>G (SOX10) | ENSP00000510381.1:n.*454A>G | |
| ENST00000396884.8:c.832A>G (SOX10) MANE Select | ENSP00000380093.2:p.Ile278Val | |
| ENST00000651746.1:c.166-3060A>G (SOX10) | ||
| ENST00000360880.6:c.832A>G (SOX10) | ENSP00000354130.2:p.Ile278Val | |
| ENST00000396884.6:c.832A>G (SOX10) | ENSP00000380093.2:p.Ile278Val | |
| ENST00000405557.5:c.293+6894T>C (POLR2F) | ENSP00000384112.1:n.293+6894T>C | |
| ENST00000407936.5:c.293+6894T>C (POLR2F) | ENSP00000385725.1:n.293+6894T>C | |
| ENST00000443002.5:c.*38+1754T>C (POLR2F) | ENSP00000406826.1:n.*38+1754T>C | |
| ENST00000446929.5:c.462A>G (SOX10) | ||
| NM_001301130.1:c.293+6894T>C (POLR2F) | NP_001288059.1:n.293+6894T>C | |
| NM_001301131.1:c.293+6894T>C (POLR2F) | NP_001288060.1:n.293+6894T>C | |
| NM_006941.3:c.832A>G , LRG_271t1:c.832A>G (SOX10) | NP_008872.1:p.Ile278Val | |
| XR_938243.1:n.158+1754T>C | ||
| NM_001363825.1:c.*38+1754T>C (POLR2F) | NP_001350754.1:n.*38+1754T>C | |
| NM_001301130.2:c.293+6894T>C (POLR2F) | NP_001288059.1:n.293+6894T>C | |
| NM_001301131.2:c.293+6894T>C (POLR2F) | NP_001288060.1:n.293+6894T>C | |
| NM_006941.4:c.832A>G (SOX10) MANE Select | NP_008872.1:p.Ile278Val |