Linked Data
ClinVar Variation Id:
718829
ClinVar RCV Id:
RCV000891836
dbSNP Id:
rs760510463
ExAC:
11:47603954 C / T
gnomAD v2:
11-47603954-C-T
gnomAD v3:
11-47582402-C-T
gnomAD v4:
11-47582402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582402C>T , CM000673.2:g.47582402C>T | GRCh38 |
| NC_000011.9:g.47603954C>T , CM000673.1:g.47603954C>T | GRCh37 |
| NC_000011.8:g.47560530C>T | NCBI36 |
| NG_011946.1:g.8393C>T | |
| NG_011946.2:g.8393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.561C>T MANE Select | ENSP00000263774.4:p.Ile187= | |
| ENST00000531351.2:n.1756C>T | ||
| ENST00000677462.1:n.3035C>T | ||
| ENST00000678975.1:n.2818C>T | ||
| ENST00000263774.8:c.561C>T | ENSP00000263774.4:p.Ile187= | |
| ENST00000524568.1:n.664C>T | ||
| ENST00000525212.1:n.216C>T | ||
| ENST00000525378.5:n.499C>T | ||
| ENST00000527178.1:n.161C>T | ||
| ENST00000533507.5:n.1455C>T | ||
| NM_004551.2:c.561C>T | NP_004542.1:p.Ile187= | |
| NM_004551.3:c.561C>T MANE Select | NP_004542.1:p.Ile187= |