Linked Data
ClinVar Variation Id:
377451
dbSNP Id:
rs765707984
ExAC:
18:12337548 A / G
gnomAD v2:
18-12337548-A-G
gnomAD v3:
18-12337549-A-G
gnomAD v4:
18-12337549-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337549A>G , CM000680.2:g.12337549A>G | GRCh38 |
| NC_000018.9:g.12337548A>G , CM000680.1:g.12337548A>G | GRCh37 |
| NC_000018.8:g.12327548A>G | NCBI36 |
| NG_023361.1:g.44728T>C , LRG_666:g.44728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1577-14T>C (AFG3L2) | ENSP00000508998.1:n.*1577-14T>C | |
| ENST00000687477.1:n.517-14T>C (AFG3L2) | ||
| ENST00000688199.1:c.1843-14T>C (AFG3L2) | ENSP00000510237.1:n.1843-14T>C | |
| ENST00000691179.1:c.1906-14T>C (AFG3L2) | ENSP00000509010.1:n.1906-14T>C | |
| ENST00000691970.1:c.*1358-14T>C (AFG3L2) | ENSP00000508440.1:n.*1358-14T>C | |
| ENST00000692497.1:c.*411-14T>C (AFG3L2) | ENSP00000509870.1:n.*411-14T>C | |
| ENST00000692988.1:n.1799-14T>C (AFG3L2) | ||
| ENST00000269143.8:c.1981-14T>C (AFG3L2) MANE Select | ENSP00000269143.2:n.1981-14T>C | |
| ENST00000269143.7:c.1981-14T>C (AFG3L2) | ENSP00000269143.2:n.1981-14T>C | |
| ENST00000586691.1:c.88-6500A>G (TUBB6) | ||
| NM_006796.2:c.1981-14T>C , LRG_666t1:c.1981-14T>C (AFG3L2) | NP_006787.2:n.1981-14T>C | |
| XM_011525601.1:c.1780-14T>C (AFG3L2) | XP_011523903.1:n.1780-14T>C | |
| XM_011525601.3:c.1780-14T>C (AFG3L2) | XP_011523903.1:n.1780-14T>C | |
| XR_002958227.1:n.451+647A>G | ||
| NM_006796.3:c.1981-14T>C (AFG3L2) MANE Select | NP_006787.2:n.1981-14T>C |