Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50532419C>G , CM000675.2:g.50532419C>G | GRCh38 |
| NC_000013.10:g.51106555C>G , CM000675.1:g.51106555C>G | GRCh37 |
| NC_000013.9:g.50004556C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1034-6412G>C (DLEU7) | ||
| ENST00000460525.5:n.364-775C>G (DLEU1) | ||
| ENST00000462427.1:n.452-775C>G (DLEU1) | ||
| ENST00000470726.6:n.346+98869C>G (DLEU1) | ||
| ENST00000479420.5:n.457+39658C>G (DLEU1) | ||
| ENST00000484869.6:n.1329+29539C>G (DLEU1) |