Linked Data
gnomAD v4:
3-181712818-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712818T>C , CM000665.2:g.181712818T>C | GRCh38 |
| NC_000003.11:g.181430606T>C , CM000665.1:g.181430606T>C | GRCh37 |
| NC_000003.10:g.182913300T>C | NCBI36 |
| NG_009080.1:g.5885T>C , LRG_719:g.5885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.458T>C (SOX2) MANE Select | ENSP00000323588.1:p.Val153Ala | |
| ENST00000325404.2:c.458T>C (SOX2) | ENSP00000323588.1:p.Val153Ala | |
| NM_003106.3:c.458T>C (SOX2) | NP_003097.1:p.Val153Ala | |
| NR_004053.3:n.768-2367T>C (SOX2-OT) | ||
| NR_075089.1:n.767+12935T>C (SOX2-OT) | ||
| NR_075090.1:n.482-26751T>C (SOX2-OT) | ||
| NR_075091.1:n.783-2367T>C (SOX2-OT) | ||
| NR_075092.1:n.782+12935T>C (SOX2-OT) | ||
| NR_075093.1:n.473-26751T>C (SOX2-OT) | ||
| NM_003106.4:c.458T>C (SOX2) MANE Select | NP_003097.1:p.Val153Ala |