Linked Data
dbSNP Id:
rs753122246
ExAC:
18:12337479 C / T
gnomAD v2:
18-12337479-C-T
gnomAD v3:
18-12337480-C-T
gnomAD v4:
18-12337480-C-T
COSMIC:
COSM6357115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337480C>T , CM000680.2:g.12337480C>T | GRCh38 |
| NC_000018.9:g.12337479C>T , CM000680.1:g.12337479C>T | GRCh37 |
| NC_000018.8:g.12327479C>T | NCBI36 |
| NG_023361.1:g.44797G>A , LRG_666:g.44797G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1632G>A (AFG3L2) | ENSP00000508998.1:n.*1632G>A | |
| ENST00000687477.1:n.572G>A (AFG3L2) | ||
| ENST00000688199.1:c.1898G>A (AFG3L2) | ENSP00000510237.1:p.Arg633His | |
| ENST00000691179.1:c.1961G>A (AFG3L2) | ENSP00000509010.1:p.Arg654His | |
| ENST00000691970.1:c.*1413G>A (AFG3L2) | ENSP00000508440.1:n.*1413G>A | |
| ENST00000692497.1:c.*466G>A (AFG3L2) | ENSP00000509870.1:n.*466G>A | |
| ENST00000692988.1:n.1854G>A (AFG3L2) | ||
| ENST00000269143.8:c.2036G>A (AFG3L2) MANE Select | ENSP00000269143.2:p.Arg679His | |
| ENST00000269143.7:c.2036G>A (AFG3L2) | ENSP00000269143.2:p.Arg679His | |
| ENST00000586691.1:c.88-6569C>T (TUBB6) | ||
| NM_006796.2:c.2036G>A , LRG_666t1:c.2036G>A (AFG3L2) | NP_006787.2:p.Arg679His | |
| XM_011525601.1:c.1835G>A (AFG3L2) | XP_011523903.1:p.Arg612His | |
| XM_011525601.3:c.1835G>A (AFG3L2) | XP_011523903.1:p.Arg612His | |
| XR_002958227.1:n.451+578C>T | ||
| NM_006796.3:c.2036G>A (AFG3L2) MANE Select | NP_006787.2:p.Arg679His |