Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113905154C>G , CM000663.2:g.113905154C>G | GRCh38 |
| NC_000001.10:g.114447776C>G , CM000663.1:g.114447776C>G | GRCh37 |
| NC_000001.9:g.114249299C>G | NCBI36 |
| NG_031901.1:g.4966G>C | |
| NG_057565.1:g.5536C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001319947.2:c.-330-315C>G (DCLRE1B) | NP_001306876.1:n.-330-315C>G |
| ENST00000369563.3:c.-433C>G (DCLRE1B) | ENSP00000358576.3:n.-433C>G |
| ENST00000369564.5:c.-289G>C (AP4B1) | ENSP00000358577.1:n.-289G>C |
| ENST00000369564.6:c.-289G>C (AP4B1) | ENSP00000358577.2:n.-289G>C |
| ENST00000697125.1:n.91-315C>G (DCLRE1B) | |
| ENST00000713590.1:c.-76-361G>C (AP4B1) | ENSP00000518886.1:n.-76-361G>C |
| XM_011540523.1:c.-289G>C (AP4B1) | XP_011538825.1:n.-289G>C |
| XM_011540525.1:c.-289G>C (AP4B1) | XP_011538827.1:n.-289G>C |