Linked Data
ClinVar Variation Id:
1422576
ClinVar RCV Id:
RCV001926180
dbSNP Id:
rs1847127624
gnomAD v4:
10-77980276-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77980276G>C , CM000672.2:g.77980276G>C | GRCh38 |
| NC_000010.10:g.79740034G>C , CM000672.1:g.79740034G>C | GRCh37 |
| NC_000010.9:g.79410040G>C | NCBI36 |
| NG_029648.1:g.54265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1809-3C>G | ||
| ENST00000698725.1:n.1559C>G | ||
| ENST00000698726.1:n.3122-3C>G | ||
| ENST00000698727.1:n.2855-3C>G | ||
| ENST00000698728.1:n.3471-3C>G | ||
| ENST00000698729.1:n.4919-3C>G | ||
| ENST00000698730.1:n.5017-3C>G | ||
| ENST00000698731.1:c.3751-3C>G | ENSP00000513898.1:n.3751-3C>G | |
| ENST00000698732.1:c.*2581-3C>G | ENSP00000513899.1:n.*2581-3C>G | |
| ENST00000698733.1:c.*3079-3C>G | ENSP00000513900.1:n.*3079-3C>G | |
| ENST00000698734.1:c.*2065-3C>G | ENSP00000513901.1:n.*2065-3C>G | |
| ENST00000698735.1:n.4243-3C>G | ||
| ENST00000698736.1:n.4656-3C>G | ||
| ENST00000698737.1:n.4007-3C>G | ||
| ENST00000372371.8:c.3892-3C>G MANE Select | ENSP00000361446.3:n.3892-3C>G | |
| ENST00000372371.7:c.3892-3C>G | ENSP00000361446.3:n.3892-3C>G | |
| ENST00000616246.4:c.340-3C>G | ENSP00000483738.1:n.340-3C>G | |
| NM_007055.3:c.3892-3C>G | NP_008986.2:n.3892-3C>G | |
| NM_007055.4:c.3892-3C>G MANE Select | NP_008986.2:n.3892-3C>G |