Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50816499C>T , CM000675.2:g.50816499C>T | GRCh38 |
| NC_000013.10:g.51390635C>T , CM000675.1:g.51390635C>T | GRCh37 |
| NC_000013.9:g.50288636C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651265.1:n.569+6694G>A (DLEU7) | ||
| ENST00000651397.1:n.426+26689G>A (DLEU7) | ||
| ENST00000400393.3:c.459+26689G>A (DLEU7) | ENSP00000420976.1:n.459+26689G>A | |
| NM_198989.2:c.459+26689G>A (DLEU7) | NP_945340.2:n.459+26689G>A | |
| NM_198989.3:c.459+26689G>A (DLEU7) | NP_945340.2:n.459+26689G>A | |
| NR_046551.1:n.300-2022C>T (DLEU7-AS1) | ||
| XM_011534973.1:c.459+26689G>A (DLEU7) | XP_011533275.1:n.459+26689G>A |