Linked Data
ClinVar Variation Id:
376788
dbSNP Id:
rs151294087
ExAC:
6:24533806 G / A
gnomAD v2:
6-24533806-G-A
gnomAD v3:
6-24533578-G-A
gnomAD v4:
6-24533578-G-A
COSMIC:
COSM1182499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24533578G>A , CM000668.2:g.24533578G>A | GRCh38 |
| NC_000006.11:g.24533806G>A , CM000668.1:g.24533806G>A | GRCh37 |
| NC_000006.10:g.24641785G>A | NCBI36 |
| NG_008161.1:g.43610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1474G>A MANE Select | ENSP00000350191.3:p.Val492Ile | |
| ENST00000479394.2:n.589G>A | ||
| ENST00000672352.1:c.1093G>A | ENSP00000500876.1:p.Val365Ile | |
| ENST00000672652.1:c.1437G>A | ||
| ENST00000348925.2:c.1513G>A | ENSP00000314649.3:p.Val505Ile | |
| ENST00000357578.7:c.1474G>A | ENSP00000350191.3:p.Val492Ile | |
| ENST00000479394.1:n.589G>A | ||
| ENST00000491546.5:c.1390G>A | ENSP00000417687.1:p.Val464Ile | |
| ENST00000492697.1:n.240G>A | ||
| NM_001080.3:c.1474G>A MANE Select | NP_001071.1:p.Val492Ile | |
| NM_170740.1:c.1513G>A | NP_733936.1:p.Val505Ile | |
| NM_001368954.1:c.1330G>A | NP_001355883.1:p.Val444Ile |