Linked Data
dbSNP Id:
rs1425155864
gnomAD v2:
17-7123160-C-T
gnomAD v3:
17-7219841-C-T
gnomAD v4:
17-7219841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219841C>T , CM000679.2:g.7219841C>T | GRCh38 |
| NC_000017.10:g.7123160C>T , CM000679.1:g.7123160C>T | GRCh37 |
| NC_000017.9:g.7063884C>T | NCBI36 |
| NG_007975.1:g.5008C>T | |
| NG_008391.2:g.5210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648172.8:c.-992G>A (DLG4) | ENSP00000497806.3:n.-992G>A | |
| ENST00000356839.9:c.-144C>T (ACADVL) | ENSP00000349297.5:n.-144C>T | |
| ENST00000543245.6:c.132-281C>T (ACADVL) | ENSP00000438689.2:n.132-281C>T | |
| NM_000018.3:c.-144C>T (ACADVL) | NP_000009.1:n.-144C>T | |
| NM_001033859.2:c.-144C>T (ACADVL) | NP_001029031.1:n.-144C>T | |
| NM_001270447.1:c.132-281C>T (ACADVL) | NP_001257376.1:n.132-281C>T | |
| NM_001270448.1:c.-447C>T (ACADVL) | NP_001257377.1:n.-447C>T | |
| NM_001365.3:c.-992G>A (DLG4) | NP_001356.1:n.-992G>A | |
| XM_005256489.2:c.-992G>A (DLG4) | XP_005256546.1:n.-992G>A | |
| XM_011523698.1:c.-992G>A (DLG4) | XP_011522000.1:n.-992G>A | |
| XR_243545.2:n.8G>A (DLG4) | ||
| XR_934005.1:n.8G>A (DLG4) | ||
| NM_001321074.1:c.-992G>A (DLG4) | NP_001308003.1:n.-992G>A | |
| NM_001365.4:c.-992G>A (DLG4) | NP_001356.1:n.-992G>A | |
| NR_135527.1:n.210G>A (DLG4) | ||
| XR_934005.2:n.2G>A (DLG4) | ||
| NM_001270447.2:c.132-281C>T (ACADVL) | NP_001257376.1:n.132-281C>T |