Linked Data
ClinVar Variation Id:
1942529
ClinVar RCV Id:
RCV002646849
dbSNP Id:
rs1037580993
gnomAD v3:
1-56875097-A-G
gnomAD v4:
1-56875097-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56875097A>G , CM000663.2:g.56875097A>G | GRCh38 |
| NC_000001.10:g.57340770A>G , CM000663.1:g.57340770A>G | GRCh37 |
| NC_000001.9:g.57113358A>G | NCBI36 |
| NG_012049.1:g.25328A>G , LRG_139:g.25328A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.450+4A>G | ||
| ENST00000695677.1:c.316+4A>G | ENSP00000512097.1:n.316+4A>G | |
| ENST00000695678.1:c.316+4A>G | ENSP00000512098.1:n.316+4A>G | |
| ENST00000695679.1:c.316+4A>G | ENSP00000512099.1:n.316+4A>G | |
| ENST00000695680.1:n.422+4A>G | ||
| ENST00000695681.1:c.316+4A>G | ENSP00000512100.1:n.316+4A>G | |
| ENST00000695682.1:n.410+4A>G | ||
| ENST00000695683.1:n.347+4A>G | ||
| ENST00000695684.1:n.214+4A>G | ||
| ENST00000695685.1:n.267+4A>G | ||
| ENST00000695723.1:c.316+4A>G | ENSP00000512121.1:n.316+4A>G | |
| ENST00000361249.4:c.316+4A>G MANE Select | ENSP00000354458.3:n.316+4A>G | |
| ENST00000361249.3:c.316+4A>G | ENSP00000354458.3:n.316+4A>G | |
| NM_000562.2:c.316+4A>G , LRG_139t1:c.316+4A>G | NP_000553.1:n.316+4A>G | |
| XM_011542079.1:c.316+4A>G | XP_011540381.1:n.316+4A>G | |
| XM_011542079.2:c.316+4A>G | XP_011540381.1:n.316+4A>G | |
| XM_017002234.1:c.316+4A>G | XP_016857723.1:n.316+4A>G | |
| NM_000562.3:c.316+4A>G MANE Select | NP_000553.1:n.316+4A>G |