Linked Data
ClinVar Variation Id:
2908287
ClinVar RCV Id:
RCV003729700
dbSNP Id:
rs762595044
ExAC:
10:79764651 T / C
gnomAD v2:
10-79764651-T-C
gnomAD v4:
10-78004893-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78004893T>C , CM000672.2:g.78004893T>C | GRCh38 |
| NC_000010.10:g.79764651T>C , CM000672.1:g.79764651T>C | GRCh37 |
| NC_000010.9:g.79434657T>C | NCBI36 |
| NG_029648.1:g.29648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1135-5A>G | ||
| ENST00000698728.1:n.1654-5A>G | ||
| ENST00000698729.1:n.3200-5A>G | ||
| ENST00000698730.1:n.3200-5A>G | ||
| ENST00000698731.1:c.1934-5A>G | ENSP00000513898.1:n.1934-5A>G | |
| ENST00000698732.1:c.*936-5A>G | ENSP00000513899.1:n.*936-5A>G | |
| ENST00000698733.1:c.*1262-5A>G | ENSP00000513900.1:n.*1262-5A>G | |
| ENST00000698734.1:c.2075-5A>G | ENSP00000513901.1:n.2075-5A>G | |
| ENST00000698735.1:n.2190-5A>G | ||
| ENST00000698736.1:n.2190-5A>G | ||
| ENST00000698737.1:n.2190-5A>G | ||
| ENST00000698738.1:n.2190-5A>G | ||
| ENST00000698739.1:n.2190-5A>G | ||
| ENST00000372371.8:c.2075-5A>G MANE Select | ENSP00000361446.3:n.2075-5A>G | |
| ENST00000372371.7:c.2075-5A>G | ENSP00000361446.3:n.2075-5A>G | |
| ENST00000472014.5:n.297-5A>G | ||
| ENST00000473588.2:c.738-5A>G | ||
| NM_007055.3:c.2075-5A>G | NP_008986.2:n.2075-5A>G | |
| NM_007055.4:c.2075-5A>G MANE Select | NP_008986.2:n.2075-5A>G |