Linked Data
dbSNP Id:
rs1223901228
gnomAD v2:
17-7123138-C-T
gnomAD v3:
17-7219819-C-T
gnomAD v4:
17-7219819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219819C>T , CM000679.2:g.7219819C>T | GRCh38 |
| NC_000017.10:g.7123138C>T , CM000679.1:g.7123138C>T | GRCh37 |
| NC_000017.9:g.7063862C>T | NCBI36 |
| NG_007975.1:g.4986C>T | |
| NG_008391.2:g.5232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399510.8:c.-970G>A (DLG4) | ENSP00000382428.3:n.-970G>A | |
| ENST00000648172.8:c.-970G>A (DLG4) | ENSP00000497806.3:n.-970G>A | |
| ENST00000356839.9:c.-166C>T (ACADVL) | ENSP00000349297.5:n.-166C>T | |
| ENST00000543245.6:c.132-303C>T (ACADVL) | ENSP00000438689.2:n.132-303C>T | |
| NM_001270447.1:c.132-303C>T (ACADVL) | NP_001257376.1:n.132-303C>T | |
| NM_001365.3:c.-970G>A (DLG4) | NP_001356.1:n.-970G>A | |
| XM_005256489.2:c.-970G>A (DLG4) | XP_005256546.1:n.-970G>A | |
| XM_011523698.1:c.-970G>A (DLG4) | XP_011522000.1:n.-970G>A | |
| XM_011523699.1:c.-240G>A (DLG4) | XP_011522001.1:n.-240G>A | |
| XR_243545.2:n.30G>A (DLG4) | ||
| XR_934005.1:n.30G>A (DLG4) | ||
| NM_001321074.1:c.-970G>A (DLG4) | NP_001308003.1:n.-970G>A | |
| NM_001365.4:c.-970G>A (DLG4) | NP_001356.1:n.-970G>A | |
| NR_135527.1:n.232G>A (DLG4) | ||
| XM_011523699.2:c.-240G>A (DLG4) | XP_011522001.1:n.-240G>A | |
| XR_934005.2:n.24G>A (DLG4) | ||
| NM_001270447.2:c.132-303C>T (ACADVL) | NP_001257376.1:n.132-303C>T |