Linked Data
ClinVar Variation Id:
1226892
ClinVar RCV Id:
RCV001608766
dbSNP Id:
rs11915160
gnomAD v2:
3-181431571-C-A
gnomAD v3:
3-181713783-C-A
gnomAD v4:
3-181713783-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713783C>A , CM000665.2:g.181713783C>A | GRCh38 |
| NC_000003.11:g.181431571C>A , CM000665.1:g.181431571C>A | GRCh37 |
| NC_000003.10:g.182914265C>A | NCBI36 |
| NG_009080.1:g.6850C>A , LRG_719:g.6850C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325404.3:c.*469C>A (SOX2) MANE Select | ENSP00000323588.1:n.*469C>A | |
| ENST00000325404.2:c.*469C>A (SOX2) | ENSP00000323588.1:n.*469C>A | |
| NM_003106.3:c.*469C>A (SOX2) | NP_003097.1:n.*469C>A | |
| NR_004053.3:n.768-1402C>A (SOX2-OT) | ||
| NR_075089.1:n.767+13900C>A (SOX2-OT) | ||
| NR_075090.1:n.482-25786C>A (SOX2-OT) | ||
| NR_075091.1:n.783-1402C>A (SOX2-OT) | ||
| NR_075092.1:n.782+13900C>A (SOX2-OT) | ||
| NR_075093.1:n.473-25786C>A (SOX2-OT) | ||
| NM_003106.4:c.*469C>A (SOX2) MANE Select | NP_003097.1:n.*469C>A |