Linked Data
dbSNP Id:
rs773007123
gnomAD v2:
17-7123131-G-A
gnomAD v4:
17-7219812-G-A
COSMIC:
COSN7445050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219812G>A , CM000679.2:g.7219812G>A | GRCh38 |
| NC_000017.10:g.7123131G>A , CM000679.1:g.7123131G>A | GRCh37 |
| NC_000017.9:g.7063855G>A | NCBI36 |
| NG_007975.1:g.4979G>A | |
| NG_008391.2:g.5239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399510.8:c.-963C>T (DLG4) | ENSP00000382428.3:n.-963C>T | |
| ENST00000648172.8:c.-963C>T (DLG4) | ENSP00000497806.3:n.-963C>T | |
| ENST00000356839.9:c.-173G>A (ACADVL) | ENSP00000349297.5:n.-173G>A | |
| ENST00000543245.6:c.132-310G>A (ACADVL) | ENSP00000438689.2:n.132-310G>A | |
| NM_001270447.1:c.132-310G>A (ACADVL) | NP_001257376.1:n.132-310G>A | |
| NM_001365.3:c.-963C>T (DLG4) | NP_001356.1:n.-963C>T | |
| XM_005256489.2:c.-963C>T (DLG4) | XP_005256546.1:n.-963C>T | |
| XM_011523698.1:c.-963C>T (DLG4) | XP_011522000.1:n.-963C>T | |
| XM_011523699.1:c.-233C>T (DLG4) | XP_011522001.1:n.-233C>T | |
| XR_243545.2:n.37C>T (DLG4) | ||
| XR_934005.1:n.37C>T (DLG4) | ||
| NM_001321074.1:c.-963C>T (DLG4) | NP_001308003.1:n.-963C>T | |
| NM_001365.4:c.-963C>T (DLG4) | NP_001356.1:n.-963C>T | |
| NR_135527.1:n.239C>T (DLG4) | ||
| XM_011523699.2:c.-233C>T (DLG4) | XP_011522001.1:n.-233C>T | |
| XR_934005.2:n.31C>T (DLG4) | ||
| NM_001270447.2:c.132-310G>A (ACADVL) | NP_001257376.1:n.132-310G>A |