Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113905292G>T , CM000663.2:g.113905292G>T | GRCh38 |
| NC_000001.10:g.114447914G>T , CM000663.1:g.114447914G>T | GRCh37 |
| NC_000001.9:g.114249437G>T | NCBI36 |
| NG_031901.1:g.4828C>A | |
| NG_057565.1:g.5674G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001319947.2:c.-330-177G>T (DCLRE1B) | NP_001306876.1:n.-330-177G>T |
| ENST00000369563.3:c.-295G>T (DCLRE1B) | ENSP00000358576.3:n.-295G>T |
| ENST00000650596.1:c.-295G>T (DCLRE1B) | ENSP00000497882.1:n.-295G>T |
| ENST00000697125.1:n.91-177G>T (DCLRE1B) | |
| ENST00000713590.1:c.-77+291C>A (AP4B1) | ENSP00000518886.1:n.-77+291C>A |