gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11458207 (NFE)
Genomes Max Group AF
0.11458207 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100342684C>T , CM000669.2:g.100342684C>T | GRCh38 |
| NC_000007.13:g.99940307C>T , CM000669.1:g.99940307C>T | GRCh37 |
| NC_000007.12:g.99778243C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473757.5:n.346-3181C>T (STAG3L5P) | ||
| ENST00000488972.6:n.425-3181C>T (STAG3L5P) | ||
| ENST00000493499.1:n.206-3181C>T (STAG3L5P) | ||
| NR_036569.1:n.477-3181C>T (STAG3L5P-PVRIG2P-PILRB) | ||
| NR_036570.1:n.477-3181C>T (STAG3L5P-PVRIG2P-PILRB) |