Linked Data
dbSNP Id:
rs747835655
gnomAD v2:
17-7126638-T-C
gnomAD v3:
17-7223319-T-C
gnomAD v4:
17-7223319-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223319T>C , CM000679.2:g.7223319T>C | GRCh38 |
| NC_000017.10:g.7126638T>C , CM000679.1:g.7126638T>C | GRCh37 |
| NC_000017.9:g.7067362T>C | NCBI36 |
| NG_007975.1:g.8486T>C | |
| NG_008391.2:g.1732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1182+82T>C (ACADVL) MANE Select | ENSP00000349297.5:n.1182+82T>C | |
| ENST00000322910.9:c.*1137+82T>C (ACADVL) | ENSP00000325395.5:n.*1137+82T>C | |
| ENST00000350303.9:c.1116+82T>C (ACADVL) | ENSP00000344152.5:n.1116+82T>C | |
| ENST00000356839.9:c.1182+82T>C (ACADVL) | ENSP00000349297.5:n.1182+82T>C | |
| ENST00000542255.6:c.40+82T>C (ACADVL) | ||
| ENST00000543245.6:c.1251+82T>C (ACADVL) | ENSP00000438689.2:n.1251+82T>C | |
| ENST00000578579.2:n.131+82T>C (ACADVL) | ||
| ENST00000578824.5:n.598+82T>C (ACADVL) | ||
| ENST00000579425.5:n.206+82T>C (ACADVL) | ||
| ENST00000579546.1:c.19+82T>C (ACADVL) | ||
| ENST00000583858.5:c.211+82T>C (ACADVL) | ||
| ENST00000585203.6:n.390+82T>C (ACADVL) | ||
| NM_000018.3:c.1182+82T>C (ACADVL) | NP_000009.1:n.1182+82T>C | |
| NM_001033859.2:c.1116+82T>C (ACADVL) | NP_001029031.1:n.1116+82T>C | |
| NM_001270447.1:c.1251+82T>C (ACADVL) | NP_001257376.1:n.1251+82T>C | |
| NM_001270448.1:c.954+82T>C (ACADVL) | NP_001257377.1:n.954+82T>C | |
| NR_029896.1:n.61A>G (MIR324) | ||
| XM_006721516.2:c.1182+82T>C (ACADVL) | XP_006721579.2:n.1182+82T>C | |
| XM_011523829.1:c.1182+82T>C (ACADVL) | XP_011522131.1:n.1182+82T>C | |
| XM_011523830.1:c.1182+82T>C (ACADVL) | XP_011522132.1:n.1182+82T>C | |
| XR_934021.1:n.1289+82T>C (ACADVL) | ||
| XR_934022.1:n.1289+82T>C (ACADVL) | ||
| XR_934023.1:n.1289+82T>C (ACADVL) | ||
| XM_006721516.3:c.1182+82T>C (ACADVL) | XP_006721579.2:n.1182+82T>C | |
| XM_011523829.2:c.1182+82T>C (ACADVL) | XP_011522131.1:n.1182+82T>C | |
| XM_011523830.2:c.1182+82T>C (ACADVL) | XP_011522132.1:n.1182+82T>C | |
| XM_024450741.1:c.1182+82T>C (ACADVL) | XP_024306509.1:n.1182+82T>C | |
| XR_934021.2:n.1241+82T>C (ACADVL) | ||
| XR_934022.2:n.1241+82T>C (ACADVL) | ||
| XR_934023.2:n.1241+82T>C (ACADVL) | ||
| NM_000018.4:c.1182+82T>C (ACADVL) MANE Select | NP_000009.1:n.1182+82T>C | |
| NM_001033859.3:c.1116+82T>C (ACADVL) | NP_001029031.1:n.1116+82T>C | |
| NM_001270447.2:c.1251+82T>C (ACADVL) | NP_001257376.1:n.1251+82T>C | |
| NM_001270448.2:c.954+82T>C (ACADVL) | NP_001257377.1:n.954+82T>C |