Linked Data
ClinVar Variation Id:
3059602
ClinVar RCV Id:
RCV003974573
dbSNP Id:
rs2071094657
gnomAD v4:
17-7219845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219845G>A , CM000679.2:g.7219845G>A | GRCh38 |
| NC_000017.10:g.7123164G>A , CM000679.1:g.7123164G>A | GRCh37 |
| NC_000017.9:g.7063888G>A | NCBI36 |
| NG_007975.1:g.5012G>A | |
| NG_008391.2:g.5206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-140G>A (ACADVL) | ENSP00000325395.5:n.-140G>A | |
| ENST00000356839.9:c.-140G>A (ACADVL) | ENSP00000349297.5:n.-140G>A | |
| ENST00000543245.6:c.132-277G>A (ACADVL) | ENSP00000438689.2:n.132-277G>A | |
| NM_000018.3:c.-140G>A (ACADVL) | NP_000009.1:n.-140G>A | |
| NM_001033859.2:c.-140G>A (ACADVL) | NP_001029031.1:n.-140G>A | |
| NM_001270447.1:c.132-277G>A (ACADVL) | NP_001257376.1:n.132-277G>A | |
| NM_001270448.1:c.-443G>A (ACADVL) | NP_001257377.1:n.-443G>A | |
| NM_001365.3:c.-996C>T (DLG4) | NP_001356.1:n.-996C>T | |
| XM_005256489.2:c.-996C>T (DLG4) | XP_005256546.1:n.-996C>T | |
| XM_011523698.1:c.-996C>T (DLG4) | XP_011522000.1:n.-996C>T | |
| XR_243545.2:n.4C>T (DLG4) | ||
| XR_934005.1:n.4C>T (DLG4) | ||
| NM_001321074.1:c.-996C>T (DLG4) | NP_001308003.1:n.-996C>T | |
| NM_001365.4:c.-996C>T (DLG4) | NP_001356.1:n.-996C>T | |
| NR_135527.1:n.206C>T (DLG4) | ||
| NM_001270447.2:c.132-277G>A (ACADVL) | NP_001257376.1:n.132-277G>A |