Linked Data
ClinVar Variation Id:
38389
ClinVar RCV Id:
RCV000031943
dbSNP Id:
rs151344515
PubMed:
PMID:21595125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337519A>G , CM000680.2:g.12337519A>G | GRCh38 |
| NC_000018.9:g.12337518A>G , CM000680.1:g.12337518A>G | GRCh37 |
| NC_000018.8:g.12327518A>G | NCBI36 |
| NG_023361.1:g.44758T>C , LRG_666:g.44758T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1593T>C (AFG3L2) | ENSP00000508998.1:n.*1593T>C | |
| ENST00000687477.1:n.533T>C (AFG3L2) | ||
| ENST00000688199.1:c.1859T>C (AFG3L2) | ENSP00000510237.1:p.Met620Thr | |
| ENST00000691179.1:c.1922T>C (AFG3L2) | ENSP00000509010.1:p.Met641Thr | |
| ENST00000691970.1:c.*1374T>C (AFG3L2) | ENSP00000508440.1:n.*1374T>C | |
| ENST00000692497.1:c.*427T>C (AFG3L2) | ENSP00000509870.1:n.*427T>C | |
| ENST00000692988.1:n.1815T>C (AFG3L2) | ||
| ENST00000269143.8:c.1997T>C (AFG3L2) MANE Select | ENSP00000269143.2:p.Met666Thr | |
| ENST00000269143.7:c.1997T>C (AFG3L2) | ENSP00000269143.2:p.Met666Thr | |
| ENST00000586691.1:c.88-6530A>G (TUBB6) | ||
| NM_006796.2:c.1997T>C , LRG_666t1:c.1997T>C (AFG3L2) | NP_006787.2:p.Met666Thr | |
| XM_011525601.1:c.1796T>C (AFG3L2) | XP_011523903.1:p.Met599Thr | |
| XM_011525601.3:c.1796T>C (AFG3L2) | XP_011523903.1:p.Met599Thr | |
| XR_002958227.1:n.451+617A>G | ||
| NM_006796.3:c.1997T>C (AFG3L2) MANE Select | NP_006787.2:p.Met666Thr |