Linked Data
dbSNP Id:
rs765329363
ExAC:
22:38379584 C / G
gnomAD v2:
22-38379584-C-G
gnomAD v3:
22-37983577-C-G
gnomAD v4:
22-37983577-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37983577C>G , CM000684.2:g.37983577C>G | GRCh38 |
| NC_000022.10:g.38379584C>G , CM000684.1:g.38379584C>G | GRCh37 |
| NC_000022.9:g.36709530C>G | NCBI36 |
| NG_007948.1:g.5956G>C , LRG_271:g.5956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.424G>C (SOX10) | ENSP00000513596.1:p.Val142Leu | |
| ENST00000690831.1:c.208G>C (SOX10) | ENSP00000510381.1:p.Val70Leu | |
| ENST00000396884.8:c.208G>C (SOX10) MANE Select | ENSP00000380093.2:p.Val70Leu | |
| ENST00000652356.1:n.497G>C (SOX10) | ||
| ENST00000360880.6:c.208G>C (SOX10) | ENSP00000354130.2:p.Val70Leu | |
| ENST00000396884.6:c.208G>C (SOX10) | ENSP00000380093.2:p.Val70Leu | |
| ENST00000405557.5:c.293+16407C>G (POLR2F) | ENSP00000384112.1:n.293+16407C>G | |
| ENST00000407936.5:c.294-2577C>G (POLR2F) | ENSP00000385725.1:n.294-2577C>G | |
| ENST00000427770.1:c.208G>C (SOX10) | ENSP00000414853.1:p.Val70Leu | |
| ENST00000443002.5:c.*39-1475C>G (POLR2F) | ENSP00000406826.1:n.*39-1475C>G | |
| ENST00000470555.1:n.70+762G>C (SOX10) | ||
| NM_001301130.1:c.294-2577C>G (POLR2F) | NP_001288059.1:n.294-2577C>G | |
| NM_001301131.1:c.293+16407C>G (POLR2F) | NP_001288060.1:n.293+16407C>G | |
| NM_006941.3:c.208G>C , LRG_271t1:c.208G>C (SOX10) | NP_008872.1:p.Val70Leu | |
| XR_938243.1:n.158+11267C>G | ||
| NM_001363825.1:c.*38+11267C>G (POLR2F) | NP_001350754.1:n.*38+11267C>G | |
| NM_001301130.2:c.294-2577C>G (POLR2F) | NP_001288059.1:n.294-2577C>G | |
| NM_001301131.2:c.293+16407C>G (POLR2F) | NP_001288060.1:n.293+16407C>G | |
| NM_006941.4:c.208G>C (SOX10) MANE Select | NP_008872.1:p.Val70Leu |