Linked Data
ClinVar Variation Id:
262962
dbSNP Id:
rs73051767
ExAC:
3:180362088 T / C
gnomAD v2:
3-180362088-T-C
gnomAD v3:
3-180644300-T-C
gnomAD v4:
3-180644300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180644300T>C , CM000665.2:g.180644300T>C | GRCh38 |
| NC_000003.11:g.180362088T>C , CM000665.1:g.180362088T>C | GRCh37 |
| NC_000003.10:g.181844782T>C | NCBI36 |
| NG_029581.1:g.40196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1528-43A>G MANE Select | ENSP00000417960.2:n.1528-43A>G | |
| ENST00000650641.1:n.1415-43A>G | ||
| ENST00000650889.1:n.4697A>G | ||
| ENST00000651046.1:c.1336-43A>G | ENSP00000499175.1:n.1336-43A>G | |
| ENST00000651818.1:n.1478-43A>G | ||
| ENST00000651922.1:n.853-43A>G | ||
| ENST00000652024.1:n.4205A>G | ||
| ENST00000652408.1:n.1665-43A>G | ||
| ENST00000442201.6:c.1528-43A>G | ENSP00000405708.2:n.1528-43A>G | |
| ENST00000476379.5:c.1528-43A>G | ENSP00000417960.1:n.1528-43A>G | |
| NM_181426.1:c.1528-43A>G | NP_852091.1:n.1528-43A>G | |
| NM_181426.2:c.1528-43A>G MANE Select | NP_852091.1:n.1528-43A>G |