Linked Data
ClinVar Variation Id:
3027253
ClinVar RCV Id:
RCV003887646
dbSNP Id:
rs104893800
gnomAD v4:
3-181712637-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712637G>C , CM000665.2:g.181712637G>C | GRCh38 |
| NC_000003.11:g.181430425G>C , CM000665.1:g.181430425G>C | GRCh37 |
| NC_000003.10:g.182913119G>C | NCBI36 |
| NG_009080.1:g.5704G>C , LRG_719:g.5704G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325404.3:c.277G>C (SOX2) MANE Select | ENSP00000323588.1:p.Glu93Gln | |
| ENST00000325404.2:c.277G>C (SOX2) | ENSP00000323588.1:p.Glu93Gln | |
| NM_003106.3:c.277G>C (SOX2) | NP_003097.1:p.Glu93Gln | |
| NR_004053.3:n.768-2548G>C (SOX2-OT) | ||
| NR_075089.1:n.767+12754G>C (SOX2-OT) | ||
| NR_075090.1:n.482-26932G>C (SOX2-OT) | ||
| NR_075091.1:n.783-2548G>C (SOX2-OT) | ||
| NR_075092.1:n.782+12754G>C (SOX2-OT) | ||
| NR_075093.1:n.473-26932G>C (SOX2-OT) | ||
| NM_003106.4:c.277G>C (SOX2) MANE Select | NP_003097.1:p.Glu93Gln |