Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50532652G= , CM000675.2:g.50532652G= | GRCh38 |
| NC_000013.10:g.51106788G= , CM000675.1:g.51106788G= | GRCh37 |
| NC_000013.9:g.50004789G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000460525.5:n.364-542G= (DLEU1) | |
| ENST00000462427.1:n.452-542G= (DLEU1) | |
| ENST00000470726.6:n.346+99102G= (DLEU1) | |
| ENST00000479420.5:n.457+39891G= (DLEU1) | |
| ENST00000484869.6:n.1329+29772G= (DLEU1) | |
| ENST00000651397.1:n.1034-6645C= (DLEU7) |