Linked Data
ClinVar Variation Id:
136314
dbSNP Id:
rs200476229
ExAC:
18:12344255 A / G
gnomAD v2:
18-12344255-A-G
gnomAD v3:
18-12344256-A-G
gnomAD v4:
18-12344256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12344256A>G , CM000680.2:g.12344256A>G | GRCh38 |
| NC_000018.9:g.12344255A>G , CM000680.1:g.12344255A>G | GRCh37 |
| NC_000018.8:g.12334255A>G | NCBI36 |
| NG_023361.1:g.38021T>C , LRG_666:g.38021T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683671.1:n.150-9T>C (AFG3L2) | ||
| ENST00000687337.1:c.*1260-9T>C (AFG3L2) | ENSP00000508998.1:n.*1260-9T>C | |
| ENST00000688199.1:c.1526-9T>C (AFG3L2) | ENSP00000510237.1:n.1526-9T>C | |
| ENST00000691179.1:c.1589-9T>C (AFG3L2) | ENSP00000509010.1:n.1589-9T>C | |
| ENST00000691970.1:c.*1041-9T>C (AFG3L2) | ENSP00000508440.1:n.*1041-9T>C | |
| ENST00000692497.1:c.*94-9T>C (AFG3L2) | ENSP00000509870.1:n.*94-9T>C | |
| ENST00000692988.1:n.1482-9T>C (AFG3L2) | ||
| ENST00000269143.8:c.1664-9T>C (AFG3L2) MANE Select | ENSP00000269143.2:n.1664-9T>C | |
| ENST00000269143.7:c.1664-9T>C (AFG3L2) | ENSP00000269143.2:n.1664-9T>C | |
| ENST00000586691.1:c.295A>G (TUBB6) | ||
| ENST00000588893.1:n.57-9T>C (AFG3L2) | ||
| NM_006796.2:c.1664-9T>C , LRG_666t1:c.1664-9T>C (AFG3L2) | NP_006787.2:n.1664-9T>C | |
| XM_011525601.1:c.1664-9T>C (AFG3L2) | XP_011523903.1:n.1664-9T>C | |
| XM_011525601.3:c.1664-9T>C (AFG3L2) | XP_011523903.1:n.1664-9T>C | |
| XR_001753363.1:n.623A>G | ||
| XR_002958227.1:n.659A>G | ||
| NM_006796.3:c.1664-9T>C (AFG3L2) MANE Select | NP_006787.2:n.1664-9T>C |