Linked Data
ClinVar Variation Id:
161754
ClinVar RCV Id:
RCV000149290
dbSNP Id:
rs193921136
ExAC:
8:121530224 A / G
gnomAD v2:
8-121530224-A-G
gnomAD v3:
8-120517984-A-G
gnomAD v4:
8-120517984-A-G
COSMIC:
COSM1179578
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120517984A>G , CM000670.2:g.120517984A>G | GRCh38 |
| NC_000008.10:g.121530224A>G , CM000670.1:g.121530224A>G | GRCh37 |
| NC_000008.9:g.121599405A>G | NCBI36 |
| NG_033151.1:g.77587A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305949.6:c.2380A>G MANE Select | ENSP00000303398.1:p.Ile794Val | |
| ENST00000305949.5:c.2380A>G | ENSP00000303398.1:p.Ile794Val | |
| NM_022045.4:c.2380A>G | NP_071328.2:p.Ile794Val | |
| NM_022045.5:c.2380A>G MANE Select | NP_071328.2:p.Ile794Val |