Linked Data
ClinVar Variation Id:
1328909
ClinVar RCV Id:
RCV001797541
dbSNP Id:
rs139469785
gnomAD v4:
18-12337349-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337349C>A , CM000680.2:g.12337349C>A | GRCh38 |
| NC_000018.9:g.12337348C>A , CM000680.1:g.12337348C>A | GRCh37 |
| NC_000018.8:g.12327348C>A | NCBI36 |
| NG_023361.1:g.44928G>T , LRG_666:g.44928G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687337.1:c.*1763G>T (AFG3L2) | ENSP00000508998.1:n.*1763G>T | |
| ENST00000687477.1:n.703G>T (AFG3L2) | ||
| ENST00000688199.1:c.2029G>T (AFG3L2) | ENSP00000510237.1:p.Val677Leu | |
| ENST00000691179.1:c.2092G>T (AFG3L2) | ENSP00000509010.1:p.Val698Leu | |
| ENST00000691970.1:c.*1544G>T (AFG3L2) | ENSP00000508440.1:n.*1544G>T | |
| ENST00000692497.1:c.*597G>T (AFG3L2) | ENSP00000509870.1:n.*597G>T | |
| ENST00000692988.1:n.1985G>T (AFG3L2) | ||
| ENST00000269143.8:c.2167G>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Val723Leu | |
| ENST00000269143.7:c.2167G>T (AFG3L2) | ENSP00000269143.2:p.Val723Leu | |
| ENST00000586691.1:c.88-6700C>A (TUBB6) | ||
| NM_006796.2:c.2167G>T , LRG_666t1:c.2167G>T (AFG3L2) | NP_006787.2:p.Val723Leu | |
| XM_011525601.1:c.1966G>T (AFG3L2) | XP_011523903.1:p.Val656Leu | |
| XM_011525601.3:c.1966G>T (AFG3L2) | XP_011523903.1:p.Val656Leu | |
| XR_002958227.1:n.451+447C>A | ||
| NM_006796.3:c.2167G>T (AFG3L2) MANE Select | NP_006787.2:p.Val723Leu |