Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089362C>A , CM000681.2:g.11089362C>A | GRCh38 |
| NC_000019.9:g.11200038C>A , CM000681.1:g.11200038C>A | GRCh37 |
| NC_000019.8:g.11061038C>A | NCBI36 |
| NG_009060.1:g.4982C>A , LRG_274:g.4982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558518.5:c.-187C>A (LDLR) | ENSP00000454071.1:n.-187C>A | |
| NM_000527.4:c.-187C>A , LRG_274t1:c.-187C>A (LDLR) | NP_000518.1:n.-187C>A | |
| NM_001195798.1:c.-187C>A (LDLR) | NP_001182727.1:n.-187C>A | |
| NM_001195799.1:c.-187C>A (LDLR) | NP_001182728.1:n.-187C>A | |
| NM_001195800.1:c.-187C>A (LDLR) | NP_001182729.1:n.-187C>A | |
| NM_001195803.1:c.-187C>A (LDLR) | NP_001182732.1:n.-187C>A | |
| NR_163945.1:n.298G>T (LDLR-AS1) |