gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2083275 (NFE)
Genomes Max Group AF
0.2083275 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50537219T>G , CM000675.2:g.50537219T>G | GRCh38 |
| NC_000013.10:g.51111355T>G , CM000675.1:g.51111355T>G | GRCh37 |
| NC_000013.9:g.50009356T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1034-11212A>C (DLEU7) | ||
| ENST00000470726.6:n.346+103669T>G (DLEU1) | ||
| ENST00000479420.5:n.457+44458T>G (DLEU1) | ||
| ENST00000484869.6:n.1329+34339T>G (DLEU1) |