Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620186C>T , CM000675.2:g.50620186C>T | GRCh38 |
| NC_000013.10:g.51194322C>T , CM000675.1:g.51194322C>T | GRCh37 |
| NC_000013.9:g.50092323C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63720G>A (DLEU7) | ||
| ENST00000470726.6:n.347-99461C>T (DLEU1) | ||
| ENST00000479420.5:n.560-28404C>T (DLEU1) | ||
| ENST00000484869.6:n.1330-11091C>T (DLEU1) |