Linked Data
dbSNP Id:
rs2143111711
gnomAD v4:
18-12337488-G-A
MyVariant Identifiers:
chr18:g.12337487G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337488G>A , CM000680.2:g.12337488G>A | GRCh38 |
| NC_000018.9:g.12337487G>A , CM000680.1:g.12337487G>A | GRCh37 |
| NC_000018.8:g.12327487G>A | NCBI36 |
| NG_023361.1:g.44789C>T , LRG_666:g.44789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1624C>T (AFG3L2) | ENSP00000508998.1:n.*1624C>T | |
| ENST00000687477.1:n.564C>T (AFG3L2) | ||
| ENST00000688199.1:c.1890C>T (AFG3L2) | ENSP00000510237.1:p.Asp630= | |
| ENST00000691179.1:c.1953C>T (AFG3L2) | ENSP00000509010.1:p.Asp651= | |
| ENST00000691970.1:c.*1405C>T (AFG3L2) | ENSP00000508440.1:n.*1405C>T | |
| ENST00000692497.1:c.*458C>T (AFG3L2) | ENSP00000509870.1:n.*458C>T | |
| ENST00000692988.1:n.1846C>T (AFG3L2) | ||
| ENST00000269143.8:c.2028C>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Asp676= | |
| ENST00000269143.7:c.2028C>T (AFG3L2) | ENSP00000269143.2:p.Asp676= | |
| ENST00000586691.1:c.88-6561G>A (TUBB6) | ||
| NM_006796.2:c.2028C>T , LRG_666t1:c.2028C>T (AFG3L2) | NP_006787.2:p.Asp676= | |
| XM_011525601.1:c.1827C>T (AFG3L2) | XP_011523903.1:p.Asp609= | |
| XM_011525601.3:c.1827C>T (AFG3L2) | XP_011523903.1:p.Asp609= | |
| XR_002958227.1:n.451+586G>A | ||
| NM_006796.3:c.2028C>T (AFG3L2) MANE Select | NP_006787.2:p.Asp676= |