Linked Data
ClinVar Variation Id:
370456
ClinVar RCV Id:
RCV000411894
dbSNP Id:
rs1057516502
gnomAD v4:
11-66515859-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515859A>G , CM000673.2:g.66515859A>G | GRCh38 |
| NC_000011.9:g.66283330A>G , CM000673.1:g.66283330A>G | GRCh37 |
| NC_000011.8:g.66039906A>G | NCBI36 |
| NG_009093.1:g.10212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.519-2A>G MANE Select | ENSP00000317469.7:n.519-2A>G | |
| ENST00000318312.11:c.519-2A>G | ENSP00000317469.7:n.519-2A>G | |
| ENST00000393994.4:c.519-2A>G | ENSP00000377563.2:n.519-2A>G | |
| ENST00000419755.3:c.630-2A>G | ENSP00000398526.3:n.630-2A>G | |
| ENST00000455748.6:c.432+1181A>G | ENSP00000405764.2:n.432+1181A>G | |
| ENST00000524458.5:c.*306A>G | ENSP00000436195.1:n.*306A>G | |
| ENST00000524907.5:n.615-2A>G | ||
| ENST00000525809.5:c.246-2A>G | ENSP00000431187.1:n.246-2A>G | |
| ENST00000526035.5:c.*226-2A>G | ENSP00000434197.1:n.*226-2A>G | |
| ENST00000526760.5:c.*226-2A>G | ENSP00000432140.1:n.*226-2A>G | |
| ENST00000527251.5:c.*226-2A>G | ENSP00000434360.1:n.*226-2A>G | |
| ENST00000528543.1:n.41-2A>G | ||
| ENST00000529766.5:n.526-2A>G | ||
| ENST00000529953.5:n.171-2A>G | ||
| ENST00000529955.5:n.490-2A>G | ||
| ENST00000532908.5:c.*179-2A>G | ENSP00000431866.1:n.*179-2A>G | |
| ENST00000533430.5:n.297-2A>G | ||
| ENST00000533557.5:c.*179-2A>G | ENSP00000434619.1:n.*179-2A>G | |
| ENST00000533644.5:c.472-2A>G | ENSP00000436073.1:n.472-2A>G | |
| ENST00000630659.2:c.*226-2A>G | ENSP00000486455.1:n.*226-2A>G | |
| NM_024649.4:c.519-2A>G | NP_078925.3:n.519-2A>G | |
| NM_024649.5:c.519-2A>G MANE Select | NP_078925.3:n.519-2A>G |