Linked Data
dbSNP Id:
rs752595410
ExAC:
22:38379482 C / T
gnomAD v2:
22-38379482-C-T
gnomAD v4:
22-37983475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37983475C>T , CM000684.2:g.37983475C>T | GRCh38 |
| NC_000022.10:g.38379482C>T , CM000684.1:g.38379482C>T | GRCh37 |
| NC_000022.9:g.36709428C>T | NCBI36 |
| NG_007948.1:g.6058G>A , LRG_271:g.6058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.526G>A (SOX10) | ENSP00000513596.1:p.Val176Ile | |
| ENST00000690831.1:c.310G>A (SOX10) | ENSP00000510381.1:p.Val104Ile | |
| ENST00000396884.8:c.310G>A (SOX10) MANE Select | ENSP00000380093.2:p.Val104Ile | |
| ENST00000652356.1:n.599G>A (SOX10) | ||
| ENST00000360880.6:c.310G>A (SOX10) | ENSP00000354130.2:p.Val104Ile | |
| ENST00000396884.6:c.310G>A (SOX10) | ENSP00000380093.2:p.Val104Ile | |
| ENST00000405557.5:c.293+16305C>T (POLR2F) | ENSP00000384112.1:n.293+16305C>T | |
| ENST00000407936.5:c.294-2679C>T (POLR2F) | ENSP00000385725.1:n.294-2679C>T | |
| ENST00000427770.1:c.310G>A (SOX10) | ENSP00000414853.1:p.Val104Ile | |
| ENST00000443002.5:c.*39-1577C>T (POLR2F) | ENSP00000406826.1:n.*39-1577C>T | |
| ENST00000470555.1:n.70+864G>A (SOX10) | ||
| NM_001301130.1:c.294-2679C>T (POLR2F) | NP_001288059.1:n.294-2679C>T | |
| NM_001301131.1:c.293+16305C>T (POLR2F) | NP_001288060.1:n.293+16305C>T | |
| NM_006941.3:c.310G>A , LRG_271t1:c.310G>A (SOX10) | NP_008872.1:p.Val104Ile | |
| XR_938243.1:n.158+11165C>T | ||
| NM_001363825.1:c.*38+11165C>T (POLR2F) | NP_001350754.1:n.*38+11165C>T | |
| NM_001301130.2:c.294-2679C>T (POLR2F) | NP_001288059.1:n.294-2679C>T | |
| NM_001301131.2:c.293+16305C>T (POLR2F) | NP_001288060.1:n.293+16305C>T | |
| NM_006941.4:c.310G>A (SOX10) MANE Select | NP_008872.1:p.Val104Ile |