Linked Data
ClinVar Variation Id:
2974429
ClinVar RCV Id:
RCV003836067
dbSNP Id:
rs764431242
ExAC:
12:116413133 A / C
gnomAD v2:
12-116413133-A-C
gnomAD v4:
12-115975328-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975328A>C , CM000674.2:g.115975328A>C | GRCh38 |
| NC_000012.11:g.116413133A>C , CM000674.1:g.116413133A>C | GRCh37 |
| NC_000012.10:g.114897516A>C | NCBI36 |
| NG_023366.1:g.306859T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5589-15T>G MANE Select | ENSP00000281928.3:n.5589-15T>G | |
| ENST00000548694.2:n.564T>G | ||
| ENST00000648379.1:n.3957-15T>G | ||
| ENST00000648737.1:n.5353-15T>G | ||
| ENST00000648825.1:n.3774-15T>G | ||
| ENST00000648916.1:n.3600-15T>G | ||
| ENST00000649607.1:c.3773-15T>G | ||
| ENST00000649775.1:c.2078-15T>G | ||
| ENST00000650226.1:c.5610T>G | ENSP00000496981.1:p.Ile1870Met | |
| ENST00000281928.7:c.5589-15T>G | ENSP00000281928.3:n.5589-15T>G | |
| ENST00000548694.1:n.564T>G | ||
| ENST00000552447.1:c.187T>G | ||
| NM_015335.4:c.5589-15T>G | NP_056150.1:n.5589-15T>G | |
| XM_011538080.1:c.5610T>G | XP_011536382.1:p.Ile1870Met | |
| XM_011538081.1:c.5607T>G | XP_011536383.1:p.Ile1869Met | |
| XM_011538082.1:c.5580T>G | XP_011536384.1:p.Ile1860Met | |
| XM_011538080.2:c.5610T>G | XP_011536382.1:p.Ile1870Met | |
| XM_011538081.2:c.5607T>G | XP_011536383.1:p.Ile1869Met | |
| XM_011538082.2:c.5580T>G | XP_011536384.1:p.Ile1860Met | |
| XM_017019090.1:c.5586-15T>G | XP_016874579.1:n.5586-15T>G | |
| NM_015335.5:c.5589-15T>G MANE Select | NP_056150.1:n.5589-15T>G |