Linked Data
dbSNP Id:
rs757178968
ExAC:
17:7123187 T / C
gnomAD v2:
17-7123187-T-C
gnomAD v3:
17-7219868-T-C
gnomAD v4:
17-7219868-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219868T>C , CM000679.2:g.7219868T>C | GRCh38 |
| NC_000017.10:g.7123187T>C , CM000679.1:g.7123187T>C | GRCh37 |
| NC_000017.9:g.7063911T>C | NCBI36 |
| NG_007975.1:g.5035T>C | |
| NG_008391.2:g.5183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-117T>C (ACADVL) | ENSP00000325395.5:n.-117T>C | |
| ENST00000350303.9:c.-117T>C (ACADVL) | ENSP00000344152.5:n.-117T>C | |
| ENST00000356839.9:c.-117T>C (ACADVL) | ENSP00000349297.5:n.-117T>C | |
| ENST00000543245.6:c.132-254T>C (ACADVL) | ENSP00000438689.2:n.132-254T>C | |
| ENST00000582356.5:n.9T>C (ACADVL) | ||
| ENST00000583312.5:c.-117T>C (ACADVL) | ENSP00000467920.1:n.-117T>C | |
| NM_000018.3:c.-117T>C (ACADVL) | NP_000009.1:n.-117T>C | |
| NM_001033859.2:c.-117T>C (ACADVL) | NP_001029031.1:n.-117T>C | |
| NM_001270447.1:c.132-254T>C (ACADVL) | NP_001257376.1:n.132-254T>C | |
| NM_001270448.1:c.-420T>C (ACADVL) | NP_001257377.1:n.-420T>C | |
| NM_001365.3:c.-1019A>G (DLG4) | NP_001356.1:n.-1019A>G | |
| NM_001321074.1:c.-1019A>G (DLG4) | NP_001308003.1:n.-1019A>G | |
| NM_001365.4:c.-1019A>G (DLG4) | NP_001356.1:n.-1019A>G | |
| NR_135527.1:n.183A>G (DLG4) | ||
| NM_001270447.2:c.132-254T>C (ACADVL) | NP_001257376.1:n.132-254T>C |