Linked Data
ClinVar Variation Id:
931039
dbSNP Id:
rs778455371
ExAC:
18:12337485 A / G
gnomAD v2:
18-12337485-A-G
gnomAD v3:
18-12337486-A-G
gnomAD v4:
18-12337486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337486A>G , CM000680.2:g.12337486A>G | GRCh38 |
| NC_000018.9:g.12337485A>G , CM000680.1:g.12337485A>G | GRCh37 |
| NC_000018.8:g.12327485A>G | NCBI36 |
| NG_023361.1:g.44791T>C , LRG_666:g.44791T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1626T>C (AFG3L2) | ENSP00000508998.1:n.*1626T>C | |
| ENST00000687477.1:n.566T>C (AFG3L2) | ||
| ENST00000688199.1:c.1892T>C (AFG3L2) | ENSP00000510237.1:p.Leu631Pro | |
| ENST00000691179.1:c.1955T>C (AFG3L2) | ENSP00000509010.1:p.Leu652Pro | |
| ENST00000691970.1:c.*1407T>C (AFG3L2) | ENSP00000508440.1:n.*1407T>C | |
| ENST00000692497.1:c.*460T>C (AFG3L2) | ENSP00000509870.1:n.*460T>C | |
| ENST00000692988.1:n.1848T>C (AFG3L2) | ||
| ENST00000269143.8:c.2030T>C (AFG3L2) MANE Select | ENSP00000269143.2:p.Leu677Pro | |
| ENST00000269143.7:c.2030T>C (AFG3L2) | ENSP00000269143.2:p.Leu677Pro | |
| ENST00000586691.1:c.88-6563A>G (TUBB6) | ||
| NM_006796.2:c.2030T>C , LRG_666t1:c.2030T>C (AFG3L2) | NP_006787.2:p.Leu677Pro | |
| XM_011525601.1:c.1829T>C (AFG3L2) | XP_011523903.1:p.Leu610Pro | |
| XM_011525601.3:c.1829T>C (AFG3L2) | XP_011523903.1:p.Leu610Pro | |
| XR_002958227.1:n.451+584A>G | ||
| NM_006796.3:c.2030T>C (AFG3L2) MANE Select | NP_006787.2:p.Leu677Pro |