Linked Data
dbSNP Id:
rs565838530
ExAC:
3:181430917 T / C
gnomAD v2:
3-181430917-T-C
gnomAD v3:
3-181713129-T-C
gnomAD v4:
3-181713129-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713129T>C , CM000665.2:g.181713129T>C | GRCh38 |
| NC_000003.11:g.181430917T>C , CM000665.1:g.181430917T>C | GRCh37 |
| NC_000003.10:g.182913611T>C | NCBI36 |
| NG_009080.1:g.6196T>C , LRG_719:g.6196T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.769T>C (SOX2) MANE Select | ENSP00000323588.1:p.Ser257Pro | |
| ENST00000325404.2:c.769T>C (SOX2) | ENSP00000323588.1:p.Ser257Pro | |
| NM_003106.3:c.769T>C (SOX2) | NP_003097.1:p.Ser257Pro | |
| NR_004053.3:n.768-2056T>C (SOX2-OT) | ||
| NR_075089.1:n.767+13246T>C (SOX2-OT) | ||
| NR_075090.1:n.482-26440T>C (SOX2-OT) | ||
| NR_075091.1:n.783-2056T>C (SOX2-OT) | ||
| NR_075092.1:n.782+13246T>C (SOX2-OT) | ||
| NR_075093.1:n.473-26440T>C (SOX2-OT) | ||
| NM_003106.4:c.769T>C (SOX2) MANE Select | NP_003097.1:p.Ser257Pro |