gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27045747 (NFE)
Genomes Max Group AF
0.27045747 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50531198G>A , CM000675.2:g.50531198G>A | GRCh38 |
| NC_000013.10:g.51105334G>A , CM000675.1:g.51105334G>A | GRCh37 |
| NC_000013.9:g.50003335G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1034-5191C>T (DLEU7) | ||
| ENST00000460525.5:n.364-1996G>A (DLEU1) | ||
| ENST00000462427.1:n.452-1996G>A (DLEU1) | ||
| ENST00000470726.6:n.346+97648G>A (DLEU1) | ||
| ENST00000479420.5:n.457+38437G>A (DLEU1) | ||
| ENST00000484869.6:n.1329+28318G>A (DLEU1) |