Linked Data
ClinVar Variation Id:
214057
dbSNP Id:
rs117182113
ExAC:
18:12329644 G / A
gnomAD v2:
18-12329644-G-A
gnomAD v3:
18-12329645-G-A
gnomAD v4:
18-12329645-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12329645G>A , CM000680.2:g.12329645G>A | GRCh38 |
| NC_000018.9:g.12329644G>A , CM000680.1:g.12329644G>A | GRCh37 |
| NC_000018.8:g.12319644G>A | NCBI36 |
| NG_023361.1:g.52632C>T , LRG_666:g.52632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1910C>T (AFG3L2) | ENSP00000508998.1:n.*1910C>T | |
| ENST00000687477.1:n.850C>T (AFG3L2) | ||
| ENST00000688199.1:c.2176C>T (AFG3L2) | ENSP00000510237.1:p.Leu726Phe | |
| ENST00000691179.1:c.2239C>T (AFG3L2) | ENSP00000509010.1:p.Leu747Phe | |
| ENST00000691970.1:c.*1691C>T (AFG3L2) | ENSP00000508440.1:n.*1691C>T | |
| ENST00000692497.1:c.*744C>T (AFG3L2) | ENSP00000509870.1:n.*744C>T | |
| ENST00000692988.1:n.2132C>T (AFG3L2) | ||
| ENST00000269143.8:c.2314C>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Leu772Phe | |
| ENST00000269143.7:c.2314C>T (AFG3L2) | ENSP00000269143.2:p.Leu772Phe | |
| ENST00000586691.1:c.88-14404G>A (TUBB6) | ||
| ENST00000590967.5:c.278-7468G>A (TUBB6) | ENSP00000465386.1:n.278-7468G>A | |
| ENST00000591909.5:c.*462G>A (TUBB6) | ENSP00000465040.1:n.*462G>A | |
| NM_001303525.1:c.*462G>A (TUBB6) | NP_001290454.1:n.*462G>A | |
| NM_006796.2:c.2314C>T , LRG_666t1:c.2314C>T (AFG3L2) | NP_006787.2:p.Leu772Phe | |
| XM_011525601.1:c.2113C>T (AFG3L2) | XP_011523903.1:p.Leu705Phe | |
| XM_011525601.3:c.2113C>T (AFG3L2) | XP_011523903.1:p.Leu705Phe | |
| NM_006796.3:c.2314C>T (AFG3L2) MANE Select | NP_006787.2:p.Leu772Phe | |
| NM_001303525.2:c.*462G>A (TUBB6) | NP_001290454.1:n.*462G>A |