Linked Data
ClinVar Variation Id:
889095
dbSNP Id:
rs758811358
ExAC:
18:12344204 T / G
gnomAD v2:
18-12344204-T-G
gnomAD v3:
18-12344205-T-G
gnomAD v4:
18-12344205-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12344205T>G , CM000680.2:g.12344205T>G | GRCh38 |
| NC_000018.9:g.12344204T>G , CM000680.1:g.12344204T>G | GRCh37 |
| NC_000018.8:g.12334204T>G | NCBI36 |
| NG_023361.1:g.38072A>C , LRG_666:g.38072A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683671.1:n.192A>C (AFG3L2) | ||
| ENST00000687337.1:c.*1302A>C (AFG3L2) | ENSP00000508998.1:n.*1302A>C | |
| ENST00000688199.1:c.1568A>C (AFG3L2) | ENSP00000510237.1:p.Lys523Thr | |
| ENST00000691179.1:c.1631A>C (AFG3L2) | ENSP00000509010.1:p.Lys544Thr | |
| ENST00000691970.1:c.*1083A>C (AFG3L2) | ENSP00000508440.1:n.*1083A>C | |
| ENST00000692497.1:c.*136A>C (AFG3L2) | ENSP00000509870.1:n.*136A>C | |
| ENST00000692988.1:n.1524A>C (AFG3L2) | ||
| ENST00000269143.8:c.1706A>C (AFG3L2) MANE Select | ENSP00000269143.2:p.Lys569Thr | |
| ENST00000269143.7:c.1706A>C (AFG3L2) | ENSP00000269143.2:p.Lys569Thr | |
| ENST00000586691.1:c.244T>G (TUBB6) | ||
| ENST00000588893.1:n.99A>C (AFG3L2) | ||
| NM_006796.2:c.1706A>C , LRG_666t1:c.1706A>C (AFG3L2) | NP_006787.2:p.Lys569Thr | |
| XM_011525601.1:c.1706A>C (AFG3L2) | XP_011523903.1:p.Lys569Thr | |
| XM_011525601.3:c.1706A>C (AFG3L2) | XP_011523903.1:p.Lys569Thr | |
| XR_001753363.1:n.572T>G | ||
| XR_002958227.1:n.608T>G | ||
| NM_006796.3:c.1706A>C (AFG3L2) MANE Select | NP_006787.2:p.Lys569Thr |