Linked Data
ClinVar Variation Id:
586460
ClinVar RCV Id:
RCV000713018
dbSNP Id:
rs751855138
ExAC:
18:12337468 T / C
gnomAD v2:
18-12337468-T-C
gnomAD v3:
18-12337469-T-C
gnomAD v4:
18-12337469-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337469T>C , CM000680.2:g.12337469T>C | GRCh38 |
| NC_000018.9:g.12337468T>C , CM000680.1:g.12337468T>C | GRCh37 |
| NC_000018.8:g.12327468T>C | NCBI36 |
| NG_023361.1:g.44808A>G , LRG_666:g.44808A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1643A>G (AFG3L2) | ENSP00000508998.1:n.*1643A>G | |
| ENST00000687477.1:n.583A>G (AFG3L2) | ||
| ENST00000688199.1:c.1909A>G (AFG3L2) | ENSP00000510237.1:p.Met637Val | |
| ENST00000691179.1:c.1972A>G (AFG3L2) | ENSP00000509010.1:p.Met658Val | |
| ENST00000691970.1:c.*1424A>G (AFG3L2) | ENSP00000508440.1:n.*1424A>G | |
| ENST00000692497.1:c.*477A>G (AFG3L2) | ENSP00000509870.1:n.*477A>G | |
| ENST00000692988.1:n.1865A>G (AFG3L2) | ||
| ENST00000269143.8:c.2047A>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Met683Val | |
| ENST00000269143.7:c.2047A>G (AFG3L2) | ENSP00000269143.2:p.Met683Val | |
| ENST00000586691.1:c.88-6580T>C (TUBB6) | ||
| NM_006796.2:c.2047A>G , LRG_666t1:c.2047A>G (AFG3L2) | NP_006787.2:p.Met683Val | |
| XM_011525601.1:c.1846A>G (AFG3L2) | XP_011523903.1:p.Met616Val | |
| XM_011525601.3:c.1846A>G (AFG3L2) | XP_011523903.1:p.Met616Val | |
| XR_002958227.1:n.451+567T>C | ||
| NM_006796.3:c.2047A>G (AFG3L2) MANE Select | NP_006787.2:p.Met683Val |