Linked Data
dbSNP Id:
rs778969037
ExAC:
17:7123190 G / A
gnomAD v2:
17-7123190-G-A
gnomAD v4:
17-7219871-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219871G>A , CM000679.2:g.7219871G>A | GRCh38 |
| NC_000017.10:g.7123190G>A , CM000679.1:g.7123190G>A | GRCh37 |
| NC_000017.9:g.7063914G>A | NCBI36 |
| NG_007975.1:g.5038G>A | |
| NG_008391.2:g.5180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-114G>A (ACADVL) | ENSP00000325395.5:n.-114G>A | |
| ENST00000350303.9:c.-114G>A (ACADVL) | ENSP00000344152.5:n.-114G>A | |
| ENST00000356839.9:c.-114G>A (ACADVL) | ENSP00000349297.5:n.-114G>A | |
| ENST00000543245.6:c.132-251G>A (ACADVL) | ENSP00000438689.2:n.132-251G>A | |
| ENST00000582356.5:n.12G>A (ACADVL) | ||
| ENST00000583312.5:c.-114G>A (ACADVL) | ENSP00000467920.1:n.-114G>A | |
| NM_000018.3:c.-114G>A (ACADVL) | NP_000009.1:n.-114G>A | |
| NM_001033859.2:c.-114G>A (ACADVL) | NP_001029031.1:n.-114G>A | |
| NM_001270447.1:c.132-251G>A (ACADVL) | NP_001257376.1:n.132-251G>A | |
| NM_001270448.1:c.-417G>A (ACADVL) | NP_001257377.1:n.-417G>A | |
| NM_001365.3:c.-1022C>T (DLG4) | NP_001356.1:n.-1022C>T | |
| NM_001321074.1:c.-1022C>T (DLG4) | NP_001308003.1:n.-1022C>T | |
| NM_001365.4:c.-1022C>T (DLG4) | NP_001356.1:n.-1022C>T | |
| NR_135527.1:n.180C>T (DLG4) | ||
| NM_001270447.2:c.132-251G>A (ACADVL) | NP_001257376.1:n.132-251G>A |