Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620237C>T , CM000675.2:g.50620237C>T | GRCh38 |
| NC_000013.10:g.51194373C>T , CM000675.1:g.51194373C>T | GRCh37 |
| NC_000013.9:g.50092374C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63669G>A (DLEU7) | ||
| ENST00000470726.6:n.347-99410C>T (DLEU1) | ||
| ENST00000479420.5:n.560-28353C>T (DLEU1) | ||
| ENST00000484869.6:n.1330-11040C>T (DLEU1) |