Linked Data
dbSNP Id:
rs959447081
gnomAD v2:
18-12337353-G-C
gnomAD v4:
18-12337354-G-C
MyVariant Identifiers:
chr18:g.12337353G>C (hg19)
chr18:g.12337353_12337357delinsCCTTT (hg19)
chr18:g.12337354G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337354G>C , CM000680.2:g.12337354G>C | GRCh38 |
| NC_000018.9:g.12337353G>C , CM000680.1:g.12337353G>C | GRCh37 |
| NC_000018.8:g.12327353G>C | NCBI36 |
| NG_023361.1:g.44923C>G , LRG_666:g.44923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1758C>G (AFG3L2) | ENSP00000508998.1:n.*1758C>G | |
| ENST00000687477.1:n.698C>G (AFG3L2) | ||
| ENST00000688199.1:c.2024C>G (AFG3L2) | ENSP00000510237.1:p.Ala675Gly | |
| ENST00000691179.1:c.2087C>G (AFG3L2) | ENSP00000509010.1:p.Ala696Gly | |
| ENST00000691970.1:c.*1539C>G (AFG3L2) | ENSP00000508440.1:n.*1539C>G | |
| ENST00000692497.1:c.*592C>G (AFG3L2) | ENSP00000509870.1:n.*592C>G | |
| ENST00000692988.1:n.1980C>G (AFG3L2) | ||
| ENST00000269143.8:c.2162C>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Ala721Gly | |
| ENST00000269143.7:c.2162C>G (AFG3L2) | ENSP00000269143.2:p.Ala721Gly | |
| ENST00000586691.1:c.88-6695G>C (TUBB6) | ||
| NM_006796.2:c.2162C>G , LRG_666t1:c.2162C>G (AFG3L2) | NP_006787.2:p.Ala721Gly | |
| XM_011525601.1:c.1961C>G (AFG3L2) | XP_011523903.1:p.Ala654Gly | |
| XM_011525601.3:c.1961C>G (AFG3L2) | XP_011523903.1:p.Ala654Gly | |
| XR_002958227.1:n.451+452G>C | ||
| NM_006796.3:c.2162C>G (AFG3L2) MANE Select | NP_006787.2:p.Ala721Gly |