Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620366A>C , CM000675.2:g.50620366A>C | GRCh38 |
| NC_000013.10:g.51194502A>C , CM000675.1:g.51194502A>C | GRCh37 |
| NC_000013.9:g.50092503A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63540T>G (DLEU7) | ||
| ENST00000470726.6:n.347-99281A>C (DLEU1) | ||
| ENST00000479420.5:n.560-28224A>C (DLEU1) | ||
| ENST00000484869.6:n.1330-10911A>C (DLEU1) |