Linked Data
ClinVar Variation Id:
246201
dbSNP Id:
rs773584864
ExAC:
18:29172925 A / G
gnomAD v2:
18-29172925-A-G
gnomAD v3:
18-31592962-A-G
gnomAD v4:
18-31592962-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592962A>G , CM000680.2:g.31592962A>G | GRCh38 |
| NC_000018.9:g.29172925A>G , CM000680.1:g.29172925A>G | GRCh37 |
| NC_000018.8:g.27426923A>G | NCBI36 |
| NG_009490.1:g.6196A>G , LRG_416:g.6196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.136A>G MANE Select | ENSP00000237014.4:p.Ile46Val | |
| ENST00000610404.5:c.40A>G | ENSP00000477599.2:p.Ile14Val | |
| ENST00000649620.1:c.136A>G | ENSP00000497927.1:p.Ile46Val | |
| ENST00000237014.7:c.136A>G | ENSP00000237014.3:p.Ile46Val | |
| ENST00000432547.7:n.162A>G | ||
| ENST00000541025.2:n.162A>G | ||
| ENST00000610404.4:c.136A>G | ENSP00000477599.1:p.Ile46Val | |
| ENST00000613781.1:c.136A>G | ENSP00000479174.1:p.Ile46Val | |
| NM_000371.3:c.136A>G , LRG_416t1:c.136A>G | NP_000362.1:p.Ile46Val | |
| NM_000371.4:c.136A>G MANE Select | NP_000362.1:p.Ile46Val |