Linked Data
ClinVar Variation Id:
246463
dbSNP Id:
rs879254269
gnomAD v2:
18-29172911-G-A
gnomAD v4:
18-31592948-G-A
COSMIC:
COSM987643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592948G>A , CM000680.2:g.31592948G>A | GRCh38 |
| NC_000018.9:g.29172911G>A , CM000680.1:g.29172911G>A | GRCh37 |
| NC_000018.8:g.27426909G>A | NCBI36 |
| NG_009490.1:g.6182G>A , LRG_416:g.6182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.122G>A MANE Select | ENSP00000237014.4:p.Arg41Gln | |
| ENST00000610404.5:c.26G>A | ENSP00000477599.2:p.Arg9Gln | |
| ENST00000649620.1:c.122G>A | ENSP00000497927.1:p.Arg41Gln | |
| ENST00000237014.7:c.122G>A | ENSP00000237014.3:p.Arg41Gln | |
| ENST00000432547.7:n.148G>A | ||
| ENST00000541025.2:n.148G>A | ||
| ENST00000610404.4:c.122G>A | ENSP00000477599.1:p.Arg41Gln | |
| ENST00000613781.1:c.122G>A | ENSP00000479174.1:p.Arg41Gln | |
| NM_000371.3:c.122G>A , LRG_416t1:c.122G>A | NP_000362.1:p.Arg41Gln | |
| NM_000371.4:c.122G>A MANE Select | NP_000362.1:p.Arg41Gln |