Linked Data
gnomAD v4:
3-181712950-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712950T>C , CM000665.2:g.181712950T>C | GRCh38 |
| NC_000003.11:g.181430738T>C , CM000665.1:g.181430738T>C | GRCh37 |
| NC_000003.10:g.182913432T>C | NCBI36 |
| NG_009080.1:g.6017T>C , LRG_719:g.6017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.590T>C (SOX2) MANE Select | ENSP00000323588.1:p.Met197Thr | |
| ENST00000325404.2:c.590T>C (SOX2) | ENSP00000323588.1:p.Met197Thr | |
| NM_003106.3:c.590T>C (SOX2) | NP_003097.1:p.Met197Thr | |
| NR_004053.3:n.768-2235T>C (SOX2-OT) | ||
| NR_075089.1:n.767+13067T>C (SOX2-OT) | ||
| NR_075090.1:n.482-26619T>C (SOX2-OT) | ||
| NR_075091.1:n.783-2235T>C (SOX2-OT) | ||
| NR_075092.1:n.782+13067T>C (SOX2-OT) | ||
| NR_075093.1:n.473-26619T>C (SOX2-OT) | ||
| NM_003106.4:c.590T>C (SOX2) MANE Select | NP_003097.1:p.Met197Thr |