Linked Data
gnomAD v4:
3-181712517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712517C>T , CM000665.2:g.181712517C>T | GRCh38 |
| NC_000003.11:g.181430305C>T , CM000665.1:g.181430305C>T | GRCh37 |
| NC_000003.10:g.182912999C>T | NCBI36 |
| NG_009080.1:g.5584C>T , LRG_719:g.5584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.157C>T (SOX2) MANE Select | ENSP00000323588.1:p.Arg53Cys | |
| ENST00000325404.2:c.157C>T (SOX2) | ENSP00000323588.1:p.Arg53Cys | |
| NM_003106.3:c.157C>T (SOX2) | NP_003097.1:p.Arg53Cys | |
| NR_004053.3:n.768-2668C>T (SOX2-OT) | ||
| NR_075089.1:n.767+12634C>T (SOX2-OT) | ||
| NR_075090.1:n.482-27052C>T (SOX2-OT) | ||
| NR_075091.1:n.783-2668C>T (SOX2-OT) | ||
| NR_075092.1:n.782+12634C>T (SOX2-OT) | ||
| NR_075093.1:n.473-27052C>T (SOX2-OT) | ||
| NM_003106.4:c.157C>T (SOX2) MANE Select | NP_003097.1:p.Arg53Cys |