Linked Data
ClinVar Variation Id:
38392
ClinVar RCV Id:
RCV000031946
dbSNP Id:
rs151344518
PubMed:
PMID:21595125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337504C>T , CM000680.2:g.12337504C>T | GRCh38 |
| NC_000018.9:g.12337503C>T , CM000680.1:g.12337503C>T | GRCh37 |
| NC_000018.8:g.12327503C>T | NCBI36 |
| NG_023361.1:g.44773G>A , LRG_666:g.44773G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687337.1:c.*1608G>A (AFG3L2) | ENSP00000508998.1:n.*1608G>A | |
| ENST00000687477.1:n.548G>A (AFG3L2) | ||
| ENST00000688199.1:c.1874G>A (AFG3L2) | ENSP00000510237.1:p.Gly625Glu | |
| ENST00000691179.1:c.1937G>A (AFG3L2) | ENSP00000509010.1:p.Gly646Glu | |
| ENST00000691970.1:c.*1389G>A (AFG3L2) | ENSP00000508440.1:n.*1389G>A | |
| ENST00000692497.1:c.*442G>A (AFG3L2) | ENSP00000509870.1:n.*442G>A | |
| ENST00000692988.1:n.1830G>A (AFG3L2) | ||
| ENST00000269143.8:c.2012G>A (AFG3L2) MANE Select | ENSP00000269143.2:p.Gly671Glu | |
| ENST00000269143.7:c.2012G>A (AFG3L2) | ENSP00000269143.2:p.Gly671Glu | |
| ENST00000586691.1:c.88-6545C>T (TUBB6) | ||
| NM_006796.2:c.2012G>A , LRG_666t1:c.2012G>A (AFG3L2) | NP_006787.2:p.Gly671Glu | |
| XM_011525601.1:c.1811G>A (AFG3L2) | XP_011523903.1:p.Gly604Glu | |
| XM_011525601.3:c.1811G>A (AFG3L2) | XP_011523903.1:p.Gly604Glu | |
| XR_002958227.1:n.451+602C>T | ||
| NM_006796.3:c.2012G>A (AFG3L2) MANE Select | NP_006787.2:p.Gly671Glu |