Linked Data
ClinVar Variation Id:
2634342
ClinVar RCV Id:
RCV004552519
dbSNP Id:
rs1714845693
gnomAD v4:
3-181712601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.181712601C>T , CM000665.2:g.181712601C>T | GRCh38 |
| NC_000003.11:g.181430389C>T , CM000665.1:g.181430389C>T | GRCh37 |
| NC_000003.10:g.182913083C>T | NCBI36 |
| NG_009080.1:g.5668C>T , LRG_719:g.5668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325404.3:c.241C>T (SOX2) MANE Select | ENSP00000323588.1:p.Leu81Phe | |
| ENST00000325404.2:c.241C>T (SOX2) | ENSP00000323588.1:p.Leu81Phe | |
| NM_003106.3:c.241C>T (SOX2) | NP_003097.1:p.Leu81Phe | |
| NR_004053.3:n.768-2584C>T (SOX2-OT) | ||
| NR_075089.1:n.767+12718C>T (SOX2-OT) | ||
| NR_075090.1:n.482-26968C>T (SOX2-OT) | ||
| NR_075091.1:n.783-2584C>T (SOX2-OT) | ||
| NR_075092.1:n.782+12718C>T (SOX2-OT) | ||
| NR_075093.1:n.473-26968C>T (SOX2-OT) | ||
| NM_003106.4:c.241C>T (SOX2) MANE Select | NP_003097.1:p.Leu81Phe |