Linked Data
ClinVar Variation Id:
389397
dbSNP Id:
rs367992548
ExAC:
18:12344149 G / A
gnomAD v2:
18-12344149-G-A
gnomAD v3:
18-12344150-G-A
gnomAD v4:
18-12344150-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12344150G>A , CM000680.2:g.12344150G>A | GRCh38 |
| NC_000018.9:g.12344149G>A , CM000680.1:g.12344149G>A | GRCh37 |
| NC_000018.8:g.12334149G>A | NCBI36 |
| NG_023361.1:g.38127C>T , LRG_666:g.38127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683671.1:n.247C>T (AFG3L2) | ||
| ENST00000687337.1:c.*1357C>T (AFG3L2) | ENSP00000508998.1:n.*1357C>T | |
| ENST00000688199.1:c.1623C>T (AFG3L2) | ENSP00000510237.1:p.His541= | |
| ENST00000691179.1:c.1686C>T (AFG3L2) | ENSP00000509010.1:p.His562= | |
| ENST00000691970.1:c.*1138C>T (AFG3L2) | ENSP00000508440.1:n.*1138C>T | |
| ENST00000692497.1:c.*191C>T (AFG3L2) | ENSP00000509870.1:n.*191C>T | |
| ENST00000692988.1:n.1579C>T (AFG3L2) | ||
| ENST00000269143.8:c.1761C>T (AFG3L2) MANE Select | ENSP00000269143.2:p.His587= | |
| ENST00000269143.7:c.1761C>T (AFG3L2) | ENSP00000269143.2:p.His587= | |
| ENST00000586691.1:c.189G>A (TUBB6) | ||
| ENST00000588893.1:n.154C>T (AFG3L2) | ||
| NM_006796.2:c.1761C>T , LRG_666t1:c.1761C>T (AFG3L2) | NP_006787.2:p.His587= | |
| XM_011525601.1:c.1761C>T (AFG3L2) | XP_011523903.1:p.His587= | |
| XM_011525601.3:c.1761C>T (AFG3L2) | XP_011523903.1:p.His587= | |
| XR_001753363.1:n.517G>A | ||
| XR_002958227.1:n.553G>A | ||
| NM_006796.3:c.1761C>T (AFG3L2) MANE Select | NP_006787.2:p.His587= |