Linked Data
ClinVar Variation Id:
1162780
dbSNP Id:
rs5743890
gnomAD v2:
11-1325829-T-C
gnomAD v3:
11-1304599-T-C
gnomAD v4:
11-1304599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1304599T>C , CM000673.2:g.1304599T>C | GRCh38 |
| NC_000011.9:g.1325829T>C , CM000673.1:g.1325829T>C | GRCh37 |
| NC_000011.8:g.1282405T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317204.11:c.33+4867A>G MANE Select | ENSP00000314733.5:n.33+4867A>G | |
| ENST00000263646.11:c.12+4888A>G | ENSP00000263646.6:n.12+4888A>G | |
| ENST00000317204.10:c.33+4867A>G | ENSP00000314733.5:n.33+4867A>G | |
| ENST00000525159.5:c.33+4867A>G | ENSP00000432668.1:n.33+4867A>G | |
| ENST00000527085.1:n.179+4867A>G | ||
| ENST00000527638.1:n.132+4867A>G | ||
| ENST00000527746.5:n.125+4867A>G | ||
| ENST00000527938.5:c.33+4867A>G | ENSP00000432778.1:n.33+4867A>G | |
| ENST00000530506.5:c.33+4867A>G | ENSP00000436393.1:n.33+4867A>G | |
| ENST00000530541.1:c.33+4867A>G | ENSP00000434494.1:n.33+4867A>G | |
| ENST00000530821.1:n.372+1224A>G | ||
| ENST00000532551.1:n.158+4867A>G | ||
| NM_019009.3:c.33+4867A>G | NP_061882.2:n.33+4867A>G | |
| NM_001318512.1:c.33+4867A>G | NP_001305441.1:n.33+4867A>G | |
| NM_001318515.1:c.33+4867A>G | NP_001305444.1:n.33+4867A>G | |
| NM_001318516.1:c.33+4867A>G | NP_001305445.1:n.33+4867A>G | |
| XR_001747910.2:n.158+4867A>G | ||
| NM_019009.4:c.33+4867A>G MANE Select | NP_061882.2:n.33+4867A>G | |
| NM_001318512.2:c.33+4867A>G | NP_001305441.1:n.33+4867A>G | |
| NM_001318515.2:c.33+4867A>G | NP_001305444.1:n.33+4867A>G | |
| NM_001318516.2:c.33+4867A>G | NP_001305445.1:n.33+4867A>G |