Linked Data
ClinVar Variation Id:
2986435
ClinVar RCV Id:
RCV003844106
dbSNP Id:
rs760087950
ExAC:
18:12337545 C / T
gnomAD v2:
18-12337545-C-T
gnomAD v3:
18-12337546-C-T
gnomAD v4:
18-12337546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337546C>T , CM000680.2:g.12337546C>T | GRCh38 |
| NC_000018.9:g.12337545C>T , CM000680.1:g.12337545C>T | GRCh37 |
| NC_000018.8:g.12327545C>T | NCBI36 |
| NG_023361.1:g.44731G>A , LRG_666:g.44731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1577-11G>A (AFG3L2) | ENSP00000508998.1:n.*1577-11G>A | |
| ENST00000687477.1:n.517-11G>A (AFG3L2) | ||
| ENST00000688199.1:c.1843-11G>A (AFG3L2) | ENSP00000510237.1:n.1843-11G>A | |
| ENST00000691179.1:c.1906-11G>A (AFG3L2) | ENSP00000509010.1:n.1906-11G>A | |
| ENST00000691970.1:c.*1358-11G>A (AFG3L2) | ENSP00000508440.1:n.*1358-11G>A | |
| ENST00000692497.1:c.*411-11G>A (AFG3L2) | ENSP00000509870.1:n.*411-11G>A | |
| ENST00000692988.1:n.1799-11G>A (AFG3L2) | ||
| ENST00000269143.8:c.1981-11G>A (AFG3L2) MANE Select | ENSP00000269143.2:n.1981-11G>A | |
| ENST00000269143.7:c.1981-11G>A (AFG3L2) | ENSP00000269143.2:n.1981-11G>A | |
| ENST00000586691.1:c.88-6503C>T (TUBB6) | ||
| NM_006796.2:c.1981-11G>A , LRG_666t1:c.1981-11G>A (AFG3L2) | NP_006787.2:n.1981-11G>A | |
| XM_011525601.1:c.1780-11G>A (AFG3L2) | XP_011523903.1:n.1780-11G>A | |
| XM_011525601.3:c.1780-11G>A (AFG3L2) | XP_011523903.1:n.1780-11G>A | |
| XR_002958227.1:n.451+644C>T | ||
| NM_006796.3:c.1981-11G>A (AFG3L2) MANE Select | NP_006787.2:n.1981-11G>A |