Linked Data
dbSNP Id:
rs561135750
ExAC:
18:12337342 T / C
gnomAD v2:
18-12337342-T-C
gnomAD v3:
18-12337343-T-C
gnomAD v4:
18-12337343-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337343T>C , CM000680.2:g.12337343T>C | GRCh38 |
| NC_000018.9:g.12337342T>C , CM000680.1:g.12337342T>C | GRCh37 |
| NC_000018.8:g.12327342T>C | NCBI36 |
| NG_023361.1:g.44934A>G , LRG_666:g.44934A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1769A>G (AFG3L2) | ENSP00000508998.1:n.*1769A>G | |
| ENST00000687477.1:n.709A>G (AFG3L2) | ||
| ENST00000688199.1:c.2035A>G (AFG3L2) | ENSP00000510237.1:p.Lys679Glu | |
| ENST00000691179.1:c.2098A>G (AFG3L2) | ENSP00000509010.1:p.Lys700Glu | |
| ENST00000691970.1:c.*1550A>G (AFG3L2) | ENSP00000508440.1:n.*1550A>G | |
| ENST00000692497.1:c.*603A>G (AFG3L2) | ENSP00000509870.1:n.*603A>G | |
| ENST00000692988.1:n.1991A>G (AFG3L2) | ||
| ENST00000269143.8:c.2173A>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Lys725Glu | |
| ENST00000269143.7:c.2173A>G (AFG3L2) | ENSP00000269143.2:p.Lys725Glu | |
| ENST00000586691.1:c.88-6706T>C (TUBB6) | ||
| NM_006796.2:c.2173A>G , LRG_666t1:c.2173A>G (AFG3L2) | NP_006787.2:p.Lys725Glu | |
| XM_011525601.1:c.1972A>G (AFG3L2) | XP_011523903.1:p.Lys658Glu | |
| XM_011525601.3:c.1972A>G (AFG3L2) | XP_011523903.1:p.Lys658Glu | |
| XR_002958227.1:n.451+441T>C | ||
| NM_006796.3:c.2173A>G (AFG3L2) MANE Select | NP_006787.2:p.Lys725Glu |