Linked Data
ClinVar Variation Id:
474899
dbSNP Id:
rs759918601
ExAC:
17:7123357 G / A
gnomAD v2:
17-7123357-G-A
gnomAD v3:
17-7220038-G-A
gnomAD v4:
17-7220038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220038G>A , CM000679.2:g.7220038G>A | GRCh38 |
| NC_000017.10:g.7123357G>A , CM000679.1:g.7123357G>A | GRCh37 |
| NC_000017.9:g.7064081G>A | NCBI36 |
| NG_007975.1:g.5205G>A | |
| NG_008391.2:g.5013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.54G>A (ACADVL) MANE Select | ENSP00000349297.5:p.Gly18= | |
| ENST00000322910.9:c.54G>A (ACADVL) | ENSP00000325395.5:p.Gly18= | |
| ENST00000350303.9:c.54G>A (ACADVL) | ENSP00000344152.5:p.Gly18= | |
| ENST00000356839.9:c.54G>A (ACADVL) | ENSP00000349297.5:p.Gly18= | |
| ENST00000543245.6:c.132-84G>A (ACADVL) | ENSP00000438689.2:n.132-84G>A | |
| ENST00000577191.5:n.131G>A (ACADVL) | ||
| ENST00000577857.5:n.144G>A (ACADVL) | ||
| ENST00000578269.5:n.161G>A (ACADVL) | ||
| ENST00000578421.1:n.113G>A (ACADVL) | ||
| ENST00000579286.5:n.161G>A (ACADVL) | ||
| ENST00000579886.2:c.54G>A (ACADVL) | ENSP00000463246.1:p.Gly18= | |
| ENST00000580263.5:n.144G>A (ACADVL) | ||
| ENST00000581562.5:n.101G>A (ACADVL) | ||
| ENST00000582056.5:n.144G>A (ACADVL) | ||
| ENST00000582356.5:n.179G>A (ACADVL) | ||
| ENST00000583312.5:c.54G>A (ACADVL) | ENSP00000467920.1:p.Gly18= | |
| ENST00000584103.5:c.54G>A (ACADVL) | ENSP00000465353.1:p.Gly18= | |
| NM_000018.3:c.54G>A (ACADVL) | NP_000009.1:p.Gly18= | |
| NM_001033859.2:c.54G>A (ACADVL) | NP_001029031.1:p.Gly18= | |
| NM_001270447.1:c.132-84G>A (ACADVL) | NP_001257376.1:n.132-84G>A | |
| NM_001270448.1:c.-250G>A (ACADVL) | NP_001257377.1:n.-250G>A | |
| NM_001365.3:c.-1189C>T (DLG4) | NP_001356.1:n.-1189C>T | |
| XM_006721516.2:c.54G>A (ACADVL) | XP_006721579.2:p.Gly18= | |
| XM_011523829.1:c.54G>A (ACADVL) | XP_011522131.1:p.Gly18= | |
| XM_011523830.1:c.54G>A (ACADVL) | XP_011522132.1:p.Gly18= | |
| XR_934021.1:n.161G>A (ACADVL) | ||
| XR_934022.1:n.161G>A (ACADVL) | ||
| XR_934023.1:n.161G>A (ACADVL) | ||
| NM_001321074.1:c.-1189C>T (DLG4) | NP_001308003.1:n.-1189C>T | |
| NM_001365.4:c.-1189C>T (DLG4) | NP_001356.1:n.-1189C>T | |
| NR_135527.1:n.13C>T (DLG4) | ||
| XM_006721516.3:c.54G>A (ACADVL) | XP_006721579.2:p.Gly18= | |
| XM_011523829.2:c.54G>A (ACADVL) | XP_011522131.1:p.Gly18= | |
| XM_011523830.2:c.54G>A (ACADVL) | XP_011522132.1:p.Gly18= | |
| XM_024450741.1:c.54G>A (ACADVL) | XP_024306509.1:p.Gly18= | |
| XR_934021.2:n.113G>A (ACADVL) | ||
| XR_934022.2:n.113G>A (ACADVL) | ||
| XR_934023.2:n.113G>A (ACADVL) | ||
| NM_000018.4:c.54G>A (ACADVL) MANE Select | NP_000009.1:p.Gly18= | |
| NM_001033859.3:c.54G>A (ACADVL) | NP_001029031.1:p.Gly18= | |
| NM_001270447.2:c.132-84G>A (ACADVL) | NP_001257376.1:n.132-84G>A | |
| NM_001270448.2:c.-250G>A (ACADVL) | NP_001257377.1:n.-250G>A |