gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3435404 (NFE)
Genomes Max Group AF
0.3435404 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620269C>T , CM000675.2:g.50620269C>T | GRCh38 |
| NC_000013.10:g.51194405C>T , CM000675.1:g.51194405C>T | GRCh37 |
| NC_000013.9:g.50092406C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63637G>A (DLEU7) | ||
| ENST00000470726.6:n.347-99378C>T (DLEU1) | ||
| ENST00000479420.5:n.560-28321C>T (DLEU1) | ||
| ENST00000484869.6:n.1330-11008C>T (DLEU1) |