gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27035072 (NFE)
Genomes Max Group AF
0.27035072 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50532652G>A , CM000675.2:g.50532652G>A | GRCh38 |
| NC_000013.10:g.51106788G>A , CM000675.1:g.51106788G>A | GRCh37 |
| NC_000013.9:g.50004789G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1034-6645C>T (DLEU7) | ||
| ENST00000460525.5:n.364-542G>A (DLEU1) | ||
| ENST00000462427.1:n.452-542G>A (DLEU1) | ||
| ENST00000470726.6:n.346+99102G>A (DLEU1) | ||
| ENST00000479420.5:n.457+39891G>A (DLEU1) | ||
| ENST00000484869.6:n.1329+29772G>A (DLEU1) |