Linked Data
ClinVar Variation Id:
1987882
ClinVar RCV Id:
RCV002776315
dbSNP Id:
rs1442855643
gnomAD v3:
18-12344181-C-G
gnomAD v4:
18-12344181-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12344181C>G , CM000680.2:g.12344181C>G | GRCh38 |
| NC_000018.9:g.12344180C>G , CM000680.1:g.12344180C>G | GRCh37 |
| NC_000018.8:g.12334180C>G | NCBI36 |
| NG_023361.1:g.38096G>C , LRG_666:g.38096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683671.1:n.216G>C (AFG3L2) | ||
| ENST00000687337.1:c.*1326G>C (AFG3L2) | ENSP00000508998.1:n.*1326G>C | |
| ENST00000688199.1:c.1592G>C (AFG3L2) | ENSP00000510237.1:p.Gly531Ala | |
| ENST00000691179.1:c.1655G>C (AFG3L2) | ENSP00000509010.1:p.Gly552Ala | |
| ENST00000691970.1:c.*1107G>C (AFG3L2) | ENSP00000508440.1:n.*1107G>C | |
| ENST00000692497.1:c.*160G>C (AFG3L2) | ENSP00000509870.1:n.*160G>C | |
| ENST00000692988.1:n.1548G>C (AFG3L2) | ||
| ENST00000269143.8:c.1730G>C (AFG3L2) MANE Select | ENSP00000269143.2:p.Gly577Ala | |
| ENST00000269143.7:c.1730G>C (AFG3L2) | ENSP00000269143.2:p.Gly577Ala | |
| ENST00000586691.1:c.220C>G (TUBB6) | ||
| ENST00000588893.1:n.123G>C (AFG3L2) | ||
| NM_006796.2:c.1730G>C , LRG_666t1:c.1730G>C (AFG3L2) | NP_006787.2:p.Gly577Ala | |
| XM_011525601.1:c.1730G>C (AFG3L2) | XP_011523903.1:p.Gly577Ala | |
| XM_011525601.3:c.1730G>C (AFG3L2) | XP_011523903.1:p.Gly577Ala | |
| XR_001753363.1:n.548C>G | ||
| XR_002958227.1:n.584C>G | ||
| NM_006796.3:c.1730G>C (AFG3L2) MANE Select | NP_006787.2:p.Gly577Ala |