Linked Data
ClinVar Variation Id:
1534124
ClinVar RCV Id:
RCV002082885
dbSNP Id:
rs186822905
ExAC:
11:66282991 C / G
gnomAD v2:
11-66282991-C-G
gnomAD v3:
11-66515520-C-G
gnomAD v4:
11-66515520-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515520C>G , CM000673.2:g.66515520C>G | GRCh38 |
| NC_000011.9:g.66282991C>G , CM000673.1:g.66282991C>G | GRCh37 |
| NC_000011.8:g.66039567C>G | NCBI36 |
| NG_009093.1:g.9873C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.433-20C>G MANE Select | ENSP00000317469.7:n.433-20C>G | |
| ENST00000318312.11:c.433-20C>G | ENSP00000317469.7:n.433-20C>G | |
| ENST00000393994.4:c.433-20C>G | ENSP00000377563.2:n.433-20C>G | |
| ENST00000419755.3:c.544-20C>G | ENSP00000398526.3:n.544-20C>G | |
| ENST00000455748.6:c.432+842C>G | ENSP00000405764.2:n.432+842C>G | |
| ENST00000524458.5:c.*140-173C>G | ENSP00000436195.1:n.*140-173C>G | |
| ENST00000524705.2:c.154-20C>G | ENSP00000436927.1:n.154-20C>G | |
| ENST00000524907.5:n.423-20C>G | ||
| ENST00000525809.5:c.160-20C>G | ENSP00000431187.1:n.160-20C>G | |
| ENST00000526035.5:c.*140-20C>G | ENSP00000434197.1:n.*140-20C>G | |
| ENST00000526760.5:c.*140-20C>G | ENSP00000432140.1:n.*140-20C>G | |
| ENST00000527251.5:c.*140-20C>G | ENSP00000434360.1:n.*140-20C>G | |
| ENST00000529766.5:n.440-20C>G | ||
| ENST00000529953.5:n.85-20C>G | ||
| ENST00000529955.5:n.451-173C>G | ||
| ENST00000532908.5:c.*140-173C>G | ENSP00000431866.1:n.*140-173C>G | |
| ENST00000533430.5:n.211-20C>G | ||
| ENST00000533557.5:c.*140-173C>G | ENSP00000434619.1:n.*140-173C>G | |
| ENST00000533644.5:c.433-173C>G | ENSP00000436073.1:n.433-173C>G | |
| ENST00000534730.5:n.445-20C>G | ||
| ENST00000630659.2:c.*140-20C>G | ENSP00000486455.1:n.*140-20C>G | |
| NM_024649.4:c.433-20C>G | NP_078925.3:n.433-20C>G | |
| NM_024649.5:c.433-20C>G MANE Select | NP_078925.3:n.433-20C>G |