Linked Data
ClinVar Variation Id:
2938342
ClinVar RCV Id:
RCV003797164
dbSNP Id:
rs142893042
gnomAD v2:
17-79478458-G-T
gnomAD v3:
17-81511432-G-T
gnomAD v4:
17-81511432-G-T
MyVariant Identifiers:
chr17:g.79478458G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81511432G>T , CM000679.2:g.81511432G>T | GRCh38 |
| NC_000017.10:g.79478458G>T , CM000679.1:g.79478458G>T | GRCh37 |
| NC_000017.9:g.77093053G>T | NCBI36 |
| NG_011433.1:g.6370C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.558C>A | ENSP00000466346.2:p.Thr186= | |
| ENST00000571691.6:c.486C>A | ENSP00000461407.2:p.Thr162= | |
| ENST00000571721.6:c.558C>A | ENSP00000460660.2:p.Thr186= | |
| ENST00000572105.7:c.*2C>A | ENSP00000462823.1:n.*2C>A | |
| ENST00000573283.7:c.558C>A MANE Select | ENSP00000458435.1:p.Thr186= | |
| ENST00000574671.6:n.958C>A | ||
| ENST00000575659.6:c.558C>A | ENSP00000459119.2:p.Thr186= | |
| ENST00000575994.6:c.558C>A | ENSP00000460464.2:p.Thr186= | |
| ENST00000576214.3:n.859C>A | ||
| ENST00000576544.6:c.558C>A | ENSP00000461672.1:p.Thr186= | |
| ENST00000615544.5:c.558C>A | ENSP00000477968.1:p.Thr186= | |
| ENST00000644774.2:c.531C>A | ENSP00000493648.2:p.Thr177= | |
| ENST00000679410.1:n.682C>A | ||
| ENST00000679480.1:c.558C>A | ENSP00000506201.1:p.Thr186= | |
| ENST00000679535.1:n.859C>A | ||
| ENST00000679778.1:c.558C>A | ENSP00000505235.1:p.Thr186= | |
| ENST00000680227.1:c.558C>A | ENSP00000506253.1:p.Thr186= | |
| ENST00000680727.1:c.558C>A | ENSP00000505193.1:p.Thr186= | |
| ENST00000681052.1:c.558C>A | ENSP00000505060.1:p.Thr186= | |
| ENST00000681092.1:c.*362C>A | ENSP00000506720.1:n.*362C>A | |
| ENST00000681842.1:c.558C>A | ENSP00000506126.1:p.Thr186= | |
| ENST00000331925.6:c.558C>A | ENSP00000331514.2:p.Thr186= | |
| ENST00000571691.5:c.531C>A | ENSP00000461407.1:p.Thr177= | |
| ENST00000572105.6:c.*2C>A | ENSP00000462823.1:n.*2C>A | |
| ENST00000573283.5:c.558C>A | ENSP00000458435.1:p.Thr186= | |
| ENST00000574671.5:n.417C>A | ||
| ENST00000575087.5:c.558C>A | ENSP00000459124.1:p.Thr186= | |
| ENST00000575659.5:c.558C>A | ENSP00000459119.1:p.Thr186= | |
| ENST00000575842.5:c.558C>A | ENSP00000458162.1:p.Thr186= | |
| ENST00000575994.5:c.558C>A | ENSP00000460464.1:p.Thr186= | |
| ENST00000576209.5:n.443C>A | ||
| ENST00000576214.2:n.756C>A | ||
| ENST00000576544.5:c.558C>A | ENSP00000461672.1:p.Thr186= | |
| ENST00000576917.5:n.611C>A | ||
| ENST00000615544.4:c.558C>A | ENSP00000477968.1:p.Thr186= | |
| NM_001199954.1:c.558C>A | NP_001186883.1:p.Thr186= | |
| NM_001614.3:c.558C>A | NP_001605.1:p.Thr186= | |
| NR_037688.1:n.697C>A | ||
| NM_001199954.2:c.558C>A | NP_001186883.1:p.Thr186= | |
| NM_001614.4:c.558C>A | NP_001605.1:p.Thr186= | |
| NR_037688.2:n.630C>A | ||
| NM_001614.5:c.558C>A MANE Select | NP_001605.1:p.Thr186= | |
| NR_037688.3:n.630C>A | ||
| NM_001199954.3:c.558C>A | NP_001186883.1:p.Thr186= |