Linked Data
ClinVar Variation Id:
422342
dbSNP Id:
rs147941728
ExAC:
17:17942194 C / A
gnomAD v2:
17-17942194-C-A
gnomAD v3:
17-18038880-C-A
gnomAD v4:
17-18038880-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18038880C>A , CM000679.2:g.18038880C>A | GRCh38 |
| NC_000017.10:g.17942194C>A , CM000679.1:g.17942194C>A | GRCh37 |
| NC_000017.9:g.17882919C>A | NCBI36 |
| NG_012824.1:g.5287G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474627.8:c.133+1G>T MANE Select | ENSP00000417190.2:n.133+1G>T | |
| ENST00000444058.1:c.133+1G>T | ENSP00000397198.1:n.133+1G>T | |
| ENST00000462733.5:c.133+1G>T | ENSP00000463920.1:n.133+1G>T | |
| ENST00000474627.7:c.133+1G>T | ENSP00000417190.2:n.133+1G>T | |
| ENST00000497871.1:n.321+1G>T | ||
| ENST00000577586.5:n.284+1G>T | ||
| ENST00000584205.5:c.133+1G>T | ENSP00000462899.1:n.133+1G>T | |
| ENST00000585101.5:c.133+1G>T | ENSP00000463861.1:n.133+1G>T | |
| NM_145691.3:c.133+1G>T | NP_663729.1:n.133+1G>T | |
| XM_005256848.2:c.133+1G>T | XP_005256905.1:n.133+1G>T | |
| XM_011524062.1:c.133+1G>T | XP_011522364.1:n.133+1G>T | |
| XM_011524063.1:c.133+1G>T | XP_011522365.1:n.133+1G>T | |
| XM_011524064.1:c.-22+1G>T | XP_011522366.1:n.-22+1G>T | |
| XM_011524065.1:c.133+1G>T | XP_011522367.1:n.133+1G>T | |
| XR_934116.1:n.289+1G>T | ||
| XM_005256848.4:c.133+1G>T | XP_005256905.1:n.133+1G>T | |
| XM_011524065.2:c.133+1G>T | XP_011522367.1:n.133+1G>T | |
| XM_017025302.1:c.-22+1G>T | XP_016880791.1:n.-22+1G>T | |
| XM_017025303.1:c.-22+1G>T | XP_016880792.1:n.-22+1G>T | |
| XR_001752677.2:n.288+1G>T | ||
| NM_145691.4:c.133+1G>T MANE Select | NP_663729.1:n.133+1G>T |