Linked Data
dbSNP Id:
rs1468811975
gnomAD v4:
17-81511118-A-G
MyVariant Identifiers:
chr17:g.81511118A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81511118A>G , CM000679.2:g.81511118A>G | GRCh38 |
| NC_000017.10:g.79478144A>G , CM000679.1:g.79478144A>G | GRCh37 |
| NC_000017.9:g.77092739A>G | NCBI36 |
| NG_011433.1:g.6684T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.803-10T>C | ENSP00000466346.2:n.803-10T>C | |
| ENST00000571691.6:c.731-10T>C | ENSP00000461407.2:n.731-10T>C | |
| ENST00000571721.6:c.803-10T>C | ENSP00000460660.2:n.803-10T>C | |
| ENST00000572105.7:c.*247-10T>C | ENSP00000462823.1:n.*247-10T>C | |
| ENST00000573283.7:c.803-10T>C MANE Select | ENSP00000458435.1:n.803-10T>C | |
| ENST00000574671.6:n.1203-10T>C | ||
| ENST00000575659.6:c.803-10T>C | ENSP00000459119.2:n.803-10T>C | |
| ENST00000575994.6:c.803-10T>C | ENSP00000460464.2:n.803-10T>C | |
| ENST00000576214.3:n.1104-10T>C | ||
| ENST00000576544.6:c.803-10T>C | ENSP00000461672.1:n.803-10T>C | |
| ENST00000615544.5:c.803-10T>C | ENSP00000477968.1:n.803-10T>C | |
| ENST00000644774.2:c.776-10T>C | ENSP00000493648.2:n.776-10T>C | |
| ENST00000679410.1:n.996T>C | ||
| ENST00000679480.1:c.803-10T>C | ENSP00000506201.1:n.803-10T>C | |
| ENST00000679535.1:n.1104-10T>C | ||
| ENST00000679778.1:c.803-10T>C | ENSP00000505235.1:n.803-10T>C | |
| ENST00000680227.1:c.803-10T>C | ENSP00000506253.1:n.803-10T>C | |
| ENST00000680727.1:c.803-10T>C | ENSP00000505193.1:n.803-10T>C | |
| ENST00000681052.1:c.803-10T>C | ENSP00000505060.1:n.803-10T>C | |
| ENST00000681092.1:c.*607-10T>C | ENSP00000506720.1:n.*607-10T>C | |
| ENST00000681842.1:c.803-10T>C | ENSP00000506126.1:n.803-10T>C | |
| ENST00000331925.6:c.803-10T>C | ENSP00000331514.2:n.803-10T>C | |
| ENST00000572105.6:c.*247-10T>C | ENSP00000462823.1:n.*247-10T>C | |
| ENST00000573283.5:c.803-10T>C | ENSP00000458435.1:n.803-10T>C | |
| ENST00000574671.5:n.662-10T>C | ||
| ENST00000575087.5:c.803-10T>C | ENSP00000459124.1:n.803-10T>C | |
| ENST00000575842.5:c.803-10T>C | ENSP00000458162.1:n.803-10T>C | |
| ENST00000576209.5:n.688-10T>C | ||
| ENST00000576214.2:n.1001-10T>C | ||
| ENST00000576544.5:c.803-10T>C | ENSP00000461672.1:n.803-10T>C | |
| ENST00000576917.5:n.925T>C | ||
| ENST00000615544.4:c.803-10T>C | ENSP00000477968.1:n.803-10T>C | |
| NM_001199954.1:c.803-10T>C | NP_001186883.1:n.803-10T>C | |
| NM_001614.3:c.803-10T>C | NP_001605.1:n.803-10T>C | |
| NR_037688.1:n.942-10T>C | ||
| NM_001199954.2:c.803-10T>C | NP_001186883.1:n.803-10T>C | |
| NM_001614.4:c.803-10T>C | NP_001605.1:n.803-10T>C | |
| NR_037688.2:n.875-10T>C | ||
| NM_001614.5:c.803-10T>C MANE Select | NP_001605.1:n.803-10T>C | |
| NR_037688.3:n.875-10T>C | ||
| NM_001199954.3:c.803-10T>C | NP_001186883.1:n.803-10T>C |