Linked Data
ClinVar Variation Id:
324979
ClinVar RCV Id:
RCV000400753
dbSNP Id:
rs886053371
gnomAD v2:
17-7123172-C-T
gnomAD v3:
17-7219853-C-T
gnomAD v4:
17-7219853-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219853C>T , CM000679.2:g.7219853C>T | GRCh38 |
| NC_000017.10:g.7123172C>T , CM000679.1:g.7123172C>T | GRCh37 |
| NC_000017.9:g.7063896C>T | NCBI36 |
| NG_007975.1:g.5020C>T | |
| NG_008391.2:g.5198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-132C>T (ACADVL) | ENSP00000325395.5:n.-132C>T | |
| ENST00000356839.9:c.-132C>T (ACADVL) | ENSP00000349297.5:n.-132C>T | |
| ENST00000543245.6:c.132-269C>T (ACADVL) | ENSP00000438689.2:n.132-269C>T | |
| NM_000018.3:c.-132C>T (ACADVL) | NP_000009.1:n.-132C>T | |
| NM_001033859.2:c.-132C>T (ACADVL) | NP_001029031.1:n.-132C>T | |
| NM_001270447.1:c.132-269C>T (ACADVL) | NP_001257376.1:n.132-269C>T | |
| NM_001270448.1:c.-435C>T (ACADVL) | NP_001257377.1:n.-435C>T | |
| NM_001365.3:c.-1004G>A (DLG4) | NP_001356.1:n.-1004G>A | |
| NM_001321074.1:c.-1004G>A (DLG4) | NP_001308003.1:n.-1004G>A | |
| NM_001365.4:c.-1004G>A (DLG4) | NP_001356.1:n.-1004G>A | |
| NR_135527.1:n.198G>A (DLG4) | ||
| NM_001270447.2:c.132-269C>T (ACADVL) | NP_001257376.1:n.132-269C>T |