Linked Data
ClinVar Variation Id:
2082063
ClinVar RCV Id:
RCV003007182
dbSNP Id:
rs763210407
ExAC:
22:38373985 C / G
gnomAD v2:
22-38373985-C-G
gnomAD v4:
22-37977978-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37977978C>G , CM000684.2:g.37977978C>G | GRCh38 |
| NC_000022.10:g.38373985C>G , CM000684.1:g.38373985C>G | GRCh37 |
| NC_000022.9:g.36703931C>G | NCBI36 |
| NG_007948.1:g.11555G>C , LRG_271:g.11555G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.802G>C (SOX10) | ENSP00000513596.1:p.Glu268Gln | |
| ENST00000690831.1:c.*208G>C (SOX10) | ENSP00000510381.1:n.*208G>C | |
| ENST00000396884.8:c.586G>C (SOX10) MANE Select | ENSP00000380093.2:p.Glu196Gln | |
| ENST00000651746.1:c.54G>C (SOX10) | ||
| ENST00000360880.6:c.586G>C (SOX10) | ENSP00000354130.2:p.Glu196Gln | |
| ENST00000396884.6:c.586G>C (SOX10) | ENSP00000380093.2:p.Glu196Gln | |
| ENST00000405557.5:c.293+10808C>G (POLR2F) | ENSP00000384112.1:n.293+10808C>G | |
| ENST00000407936.5:c.294-8176C>G (POLR2F) | ENSP00000385725.1:n.294-8176C>G | |
| ENST00000427770.1:c.586G>C (SOX10) | ENSP00000414853.1:p.Glu196Gln | |
| ENST00000443002.5:c.*38+5668C>G (POLR2F) | ENSP00000406826.1:n.*38+5668C>G | |
| ENST00000446929.5:c.216G>C (SOX10) | ||
| NM_001301130.1:c.294-8176C>G (POLR2F) | NP_001288059.1:n.294-8176C>G | |
| NM_001301131.1:c.293+10808C>G (POLR2F) | NP_001288060.1:n.293+10808C>G | |
| NM_006941.3:c.586G>C , LRG_271t1:c.586G>C (SOX10) | NP_008872.1:p.Glu196Gln | |
| XR_938243.1:n.158+5668C>G | ||
| NM_001363825.1:c.*38+5668C>G (POLR2F) | NP_001350754.1:n.*38+5668C>G | |
| NM_001301130.2:c.294-8176C>G (POLR2F) | NP_001288059.1:n.294-8176C>G | |
| NM_001301131.2:c.293+10808C>G (POLR2F) | NP_001288060.1:n.293+10808C>G | |
| NM_006941.4:c.586G>C (SOX10) MANE Select | NP_008872.1:p.Glu196Gln |