Linked Data
ClinVar Variation Id:
1006491
ClinVar RCV Id:
RCV001303541
dbSNP Id:
rs146948558
ExAC:
12:5021211 A / G
gnomAD v2:
12-5021211-A-G
gnomAD v3:
12-4912045-A-G
gnomAD v4:
12-4912045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912045A>G , CM000674.2:g.4912045A>G | GRCh38 |
| NC_000012.11:g.5021211A>G , CM000674.1:g.5021211A>G | GRCh37 |
| NC_000012.10:g.4891472A>G | NCBI36 |
| NG_011815.1:g.7139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.667A>G MANE Select | ENSP00000371985.3:p.Ile223Val | |
| ENST00000543874.3:n.105+1573A>G | ||
| ENST00000639306.1:c.505A>G | ENSP00000492506.1:p.Ile169Val | |
| ENST00000382545.3:c.667A>G | ENSP00000371985.3:p.Ile223Val | |
| ENST00000541095.1:n.105+1573A>G | ||
| ENST00000543874.2:n.96+1573A>G | ||
| NM_000217.2:c.667A>G | NP_000208.2:p.Ile223Val | |
| NM_000217.3:c.667A>G MANE Select | NP_000208.2:p.Ile223Val |