Linked Data
ClinVar Variation Id:
12825
dbSNP Id:
rs121918652
ExAC:
3:181430537 G / C
gnomAD v2:
3-181430537-G-C
gnomAD v3:
3-181712749-G-C
gnomAD v4:
3-181712749-G-C
PubMed:
PMID:16932809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712749G>C , CM000665.2:g.181712749G>C | GRCh38 |
| NC_000003.11:g.181430537G>C , CM000665.1:g.181430537G>C | GRCh37 |
| NC_000003.10:g.182913231G>C | NCBI36 |
| NG_009080.1:g.5816G>C , LRG_719:g.5816G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325404.3:c.389G>C (SOX2) MANE Select | ENSP00000323588.1:p.Gly130Ala | |
| ENST00000325404.2:c.389G>C (SOX2) | ENSP00000323588.1:p.Gly130Ala | |
| NM_003106.3:c.389G>C (SOX2) | NP_003097.1:p.Gly130Ala | |
| NR_004053.3:n.768-2436G>C (SOX2-OT) | ||
| NR_075089.1:n.767+12866G>C (SOX2-OT) | ||
| NR_075090.1:n.482-26820G>C (SOX2-OT) | ||
| NR_075091.1:n.783-2436G>C (SOX2-OT) | ||
| NR_075092.1:n.782+12866G>C (SOX2-OT) | ||
| NR_075093.1:n.473-26820G>C (SOX2-OT) | ||
| NM_003106.4:c.389G>C (SOX2) MANE Select | NP_003097.1:p.Gly130Ala |