Linked Data
gnomAD v4:
3-181713488-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181713488C>G , CM000665.2:g.181713488C>G | GRCh38 |
| NC_000003.11:g.181431276C>G , CM000665.1:g.181431276C>G | GRCh37 |
| NC_000003.10:g.182913970C>G | NCBI36 |
| NG_009080.1:g.6555C>G , LRG_719:g.6555C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.*174C>G (SOX2) MANE Select | ENSP00000323588.1:n.*174C>G | |
| ENST00000325404.2:c.*174C>G (SOX2) | ENSP00000323588.1:n.*174C>G | |
| NM_003106.3:c.*174C>G (SOX2) | NP_003097.1:n.*174C>G | |
| NR_004053.3:n.768-1697C>G (SOX2-OT) | ||
| NR_075089.1:n.767+13605C>G (SOX2-OT) | ||
| NR_075090.1:n.482-26081C>G (SOX2-OT) | ||
| NR_075091.1:n.783-1697C>G (SOX2-OT) | ||
| NR_075092.1:n.782+13605C>G (SOX2-OT) | ||
| NR_075093.1:n.473-26081C>G (SOX2-OT) | ||
| NM_003106.4:c.*174C>G (SOX2) MANE Select | NP_003097.1:n.*174C>G |