Linked Data
ClinVar Variation Id:
2091183
ClinVar RCV Id:
RCV003013480
dbSNP Id:
rs376197279
ExAC:
10:17272716 A / G
gnomAD v2:
10-17272716-A-G
gnomAD v3:
10-17230717-A-G
gnomAD v4:
10-17230717-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17230717A>G , CM000672.2:g.17230717A>G | GRCh38 |
| NC_000010.10:g.17272716A>G , CM000672.1:g.17272716A>G | GRCh37 |
| NC_000010.9:g.17312722A>G | NCBI36 |
| NG_012413.1:g.7459A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.624+7A>G MANE Select | ENSP00000446007.1:n.624+7A>G | |
| ENST00000637053.1:n.57+7A>G | ||
| ENST00000224237.9:c.624+7A>G | ENSP00000224237.5:n.624+7A>G | |
| ENST00000421459.2:c.102+7A>G | ENSP00000391842.2:n.102+7A>G | |
| ENST00000469543.5:c.78+7A>G | ENSP00000431702.1:n.78+7A>G | |
| ENST00000485947.1:n.763A>G | ||
| ENST00000487938.5:c.624+7A>G | ENSP00000435613.1:n.624+7A>G | |
| ENST00000544301.5:c.624+7A>G | ENSP00000446007.1:n.624+7A>G | |
| NM_003380.3:c.624+7A>G | NP_003371.2:n.624+7A>G | |
| XM_006717500.1:c.624+7A>G | XP_006717563.1:n.624+7A>G | |
| XM_011519649.1:c.624+7A>G | XP_011517951.1:n.624+7A>G | |
| NM_003380.4:c.624+7A>G | NP_003371.2:n.624+7A>G | |
| XM_006717500.2:c.624+7A>G | XP_006717563.1:n.624+7A>G | |
| NM_003380.5:c.624+7A>G MANE Select | NP_003371.2:n.624+7A>G |