Linked Data
ClinVar Variation Id:
30427
dbSNP Id:
rs387906889
ExAC:
18:12340333 T / C
gnomAD v2:
18-12340333-T-C
gnomAD v4:
18-12340334-T-C
PubMed:
PMID:22022284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12340334T>C , CM000680.2:g.12340334T>C | GRCh38 |
| NC_000018.9:g.12340333T>C , CM000680.1:g.12340333T>C | GRCh37 |
| NC_000018.8:g.12330333T>C | NCBI36 |
| NG_023361.1:g.41943A>G , LRG_666:g.41943A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1443A>G (AFG3L2) | ENSP00000508998.1:n.*1443A>G | |
| ENST00000687477.1:n.383A>G (AFG3L2) | ||
| ENST00000688199.1:c.1709A>G (AFG3L2) | ENSP00000510237.1:p.Tyr570Cys | |
| ENST00000691179.1:c.1772A>G (AFG3L2) | ENSP00000509010.1:p.Tyr591Cys | |
| ENST00000691970.1:c.*1224A>G (AFG3L2) | ENSP00000508440.1:n.*1224A>G | |
| ENST00000692497.1:c.*277A>G (AFG3L2) | ENSP00000509870.1:n.*277A>G | |
| ENST00000692988.1:n.1665A>G (AFG3L2) | ||
| ENST00000269143.8:c.1847A>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Tyr616Cys | |
| ENST00000269143.7:c.1847A>G (AFG3L2) | ENSP00000269143.2:p.Tyr616Cys | |
| ENST00000586691.1:c.88-3715T>C (TUBB6) | ||
| NM_006796.2:c.1847A>G , LRG_666t1:c.1847A>G (AFG3L2) | NP_006787.2:p.Tyr616Cys | |
| XM_011525601.1:c.1780-2799A>G (AFG3L2) | XP_011523903.1:n.1780-2799A>G | |
| XM_011525601.3:c.1780-2799A>G (AFG3L2) | XP_011523903.1:n.1780-2799A>G | |
| XR_001753363.1:n.415+1754T>C | ||
| XR_002958227.1:n.451+3432T>C | ||
| NM_006796.3:c.1847A>G (AFG3L2) MANE Select | NP_006787.2:p.Tyr616Cys |