Linked Data
ClinVar Variation Id:
1928603
ClinVar RCV Id:
RCV002614604
gnomAD v4:
18-12337455-T-C
MyVariant Identifiers:
chr18:g.12337454T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337455T>C , CM000680.2:g.12337455T>C | GRCh38 |
| NC_000018.9:g.12337454T>C , CM000680.1:g.12337454T>C | GRCh37 |
| NC_000018.8:g.12327454T>C | NCBI36 |
| NG_023361.1:g.44822A>G , LRG_666:g.44822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1657A>G (AFG3L2) | ENSP00000508998.1:n.*1657A>G | |
| ENST00000687477.1:n.597A>G (AFG3L2) | ||
| ENST00000688199.1:c.1923A>G (AFG3L2) | ENSP00000510237.1:p.Lys641= | |
| ENST00000691179.1:c.1986A>G (AFG3L2) | ENSP00000509010.1:p.Lys662= | |
| ENST00000691970.1:c.*1438A>G (AFG3L2) | ENSP00000508440.1:n.*1438A>G | |
| ENST00000692497.1:c.*491A>G (AFG3L2) | ENSP00000509870.1:n.*491A>G | |
| ENST00000692988.1:n.1879A>G (AFG3L2) | ||
| ENST00000269143.8:c.2061A>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Lys687= | |
| ENST00000269143.7:c.2061A>G (AFG3L2) | ENSP00000269143.2:p.Lys687= | |
| ENST00000586691.1:c.88-6594T>C (TUBB6) | ||
| NM_006796.2:c.2061A>G , LRG_666t1:c.2061A>G (AFG3L2) | NP_006787.2:p.Lys687= | |
| XM_011525601.1:c.1860A>G (AFG3L2) | XP_011523903.1:p.Lys620= | |
| XM_011525601.3:c.1860A>G (AFG3L2) | XP_011523903.1:p.Lys620= | |
| XR_002958227.1:n.451+553T>C | ||
| NM_006796.3:c.2061A>G (AFG3L2) MANE Select | NP_006787.2:p.Lys687= |