Linked Data
dbSNP Id:
rs771230386
ExAC:
18:12337528 G / C
gnomAD v2:
18-12337528-G-C
gnomAD v4:
18-12337529-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337529G>C , CM000680.2:g.12337529G>C | GRCh38 |
| NC_000018.9:g.12337528G>C , CM000680.1:g.12337528G>C | GRCh37 |
| NC_000018.8:g.12327528G>C | NCBI36 |
| NG_023361.1:g.44748C>G , LRG_666:g.44748C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1583C>G (AFG3L2) | ENSP00000508998.1:n.*1583C>G | |
| ENST00000687477.1:n.523C>G (AFG3L2) | ||
| ENST00000688199.1:c.1849C>G (AFG3L2) | ENSP00000510237.1:p.Gln617Glu | |
| ENST00000691179.1:c.1912C>G (AFG3L2) | ENSP00000509010.1:p.Gln638Glu | |
| ENST00000691970.1:c.*1364C>G (AFG3L2) | ENSP00000508440.1:n.*1364C>G | |
| ENST00000692497.1:c.*417C>G (AFG3L2) | ENSP00000509870.1:n.*417C>G | |
| ENST00000692988.1:n.1805C>G (AFG3L2) | ||
| ENST00000269143.8:c.1987C>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Gln663Glu | |
| ENST00000269143.7:c.1987C>G (AFG3L2) | ENSP00000269143.2:p.Gln663Glu | |
| ENST00000586691.1:c.88-6520G>C (TUBB6) | ||
| NM_006796.2:c.1987C>G , LRG_666t1:c.1987C>G (AFG3L2) | NP_006787.2:p.Gln663Glu | |
| XM_011525601.1:c.1786C>G (AFG3L2) | XP_011523903.1:p.Gln596Glu | |
| XM_011525601.3:c.1786C>G (AFG3L2) | XP_011523903.1:p.Gln596Glu | |
| XR_002958227.1:n.451+627G>C | ||
| NM_006796.3:c.1987C>G (AFG3L2) MANE Select | NP_006787.2:p.Gln663Glu |