gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84512455 (NFE)
Genomes Max Group AF
0.84512455 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.73661450G>A , CM000672.2:g.73661450G>A | GRCh38 |
| NC_000010.10:g.75421208G>A , CM000672.1:g.75421208G>A | GRCh37 |
| NC_000010.9:g.75091214G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606523.1:c.-103+2250C>T (SYNPO2L) | ENSP00000475768.1:n.-103+2250C>T | |
| XR_946063.1:n.179-6276G>A (SYNPO2L-AS1) | ||
| XR_946063.2:n.269-6276G>A (SYNPO2L-AS1) |