Linked Data
ClinVar Variation Id:
162524
dbSNP Id:
rs727502823
ExAC:
18:12340305 C / T
gnomAD v2:
18-12340305-C-T
gnomAD v4:
18-12340306-C-T
PubMed:
PMID:25401298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12340306C>T , CM000680.2:g.12340306C>T | GRCh38 |
| NC_000018.9:g.12340305C>T , CM000680.1:g.12340305C>T | GRCh37 |
| NC_000018.8:g.12330305C>T | NCBI36 |
| NG_023361.1:g.41971G>A , LRG_666:g.41971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1471G>A (AFG3L2) | ENSP00000508998.1:n.*1471G>A | |
| ENST00000687477.1:n.411G>A (AFG3L2) | ||
| ENST00000688199.1:c.1737G>A (AFG3L2) | ENSP00000510237.1:p.Met579Ile | |
| ENST00000691179.1:c.1800G>A (AFG3L2) | ENSP00000509010.1:p.Met600Ile | |
| ENST00000691970.1:c.*1252G>A (AFG3L2) | ENSP00000508440.1:n.*1252G>A | |
| ENST00000692497.1:c.*305G>A (AFG3L2) | ENSP00000509870.1:n.*305G>A | |
| ENST00000692988.1:n.1693G>A (AFG3L2) | ||
| ENST00000269143.8:c.1875G>A (AFG3L2) MANE Select | ENSP00000269143.2:p.Met625Ile | |
| ENST00000269143.7:c.1875G>A (AFG3L2) | ENSP00000269143.2:p.Met625Ile | |
| ENST00000586691.1:c.88-3743C>T (TUBB6) | ||
| NM_006796.2:c.1875G>A , LRG_666t1:c.1875G>A (AFG3L2) | NP_006787.2:p.Met625Ile | |
| XM_011525601.1:c.1780-2771G>A (AFG3L2) | XP_011523903.1:n.1780-2771G>A | |
| XM_011525601.3:c.1780-2771G>A (AFG3L2) | XP_011523903.1:n.1780-2771G>A | |
| XR_001753363.1:n.415+1726C>T | ||
| XR_002958227.1:n.451+3404C>T | ||
| NM_006796.3:c.1875G>A (AFG3L2) MANE Select | NP_006787.2:p.Met625Ile |