Linked Data
ClinVar Variation Id:
7403
ClinVar RCV Id:
RCV000007828
dbSNP Id:
rs74315521
gnomAD v4:
22-37974148-G-A
PubMed:
PMID:12447940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37974148G>A , CM000684.2:g.37974148G>A | GRCh38 |
| NC_000022.10:g.38370155G>A , CM000684.1:g.38370155G>A | GRCh37 |
| NC_000022.9:g.36700101G>A | NCBI36 |
| NG_007948.1:g.15385C>T , LRG_271:g.15385C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698177.1:c.964C>T (SOX10) | ENSP00000513596.1:p.Gln322Ter | |
| ENST00000690831.1:c.*370C>T (SOX10) | ENSP00000510381.1:n.*370C>T | |
| ENST00000396884.8:c.748C>T (SOX10) MANE Select | ENSP00000380093.2:p.Gln250Ter | |
| ENST00000651746.1:c.166-3144C>T (SOX10) | ||
| ENST00000360880.6:c.748C>T (SOX10) | ENSP00000354130.2:p.Gln250Ter | |
| ENST00000396884.6:c.748C>T (SOX10) | ENSP00000380093.2:p.Gln250Ter | |
| ENST00000405557.5:c.293+6978G>A (POLR2F) | ENSP00000384112.1:n.293+6978G>A | |
| ENST00000407936.5:c.293+6978G>A (POLR2F) | ENSP00000385725.1:n.293+6978G>A | |
| ENST00000443002.5:c.*38+1838G>A (POLR2F) | ENSP00000406826.1:n.*38+1838G>A | |
| ENST00000446929.5:c.378C>T (SOX10) | ||
| NM_001301130.1:c.293+6978G>A (POLR2F) | NP_001288059.1:n.293+6978G>A | |
| NM_001301131.1:c.293+6978G>A (POLR2F) | NP_001288060.1:n.293+6978G>A | |
| NM_006941.3:c.748C>T , LRG_271t1:c.748C>T (SOX10) | NP_008872.1:p.Gln250Ter | |
| XR_938243.1:n.158+1838G>A | ||
| NM_001363825.1:c.*38+1838G>A (POLR2F) | NP_001350754.1:n.*38+1838G>A | |
| NM_001301130.2:c.293+6978G>A (POLR2F) | NP_001288059.1:n.293+6978G>A | |
| NM_001301131.2:c.293+6978G>A (POLR2F) | NP_001288060.1:n.293+6978G>A | |
| NM_006941.4:c.748C>T (SOX10) MANE Select | NP_008872.1:p.Gln250Ter |