Linked Data
dbSNP Id:
rs879479662
gnomAD v2:
13-51194328-A-T
gnomAD v3:
13-50620192-A-T
gnomAD v4:
13-50620192-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620192A>T , CM000675.2:g.50620192A>T | GRCh38 |
| NC_000013.10:g.51194328A>T , CM000675.1:g.51194328A>T | GRCh37 |
| NC_000013.9:g.50092329A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63714T>A (DLEU7) | ||
| ENST00000470726.6:n.347-99455A>T (DLEU1) | ||
| ENST00000479420.5:n.560-28398A>T (DLEU1) | ||
| ENST00000484869.6:n.1330-11085A>T (DLEU1) |