Linked Data
ClinVar Variation Id:
697552
dbSNP Id:
rs112614306
ExAC:
15:72643564 C / T
gnomAD v2:
15-72643564-C-T
gnomAD v3:
15-72351223-C-T
gnomAD v4:
15-72351223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72351223C>T , CM000677.2:g.72351223C>T | GRCh38 |
| NC_000015.9:g.72643564C>T , CM000677.1:g.72643564C>T | GRCh37 |
| NC_000015.8:g.70430618C>T | NCBI36 |
| NG_009017.1:g.29957G>A | |
| NG_009017.2:g.29957G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.2928G>A | ||
| ENST00000567027.6:c.582G>A | ENSP00000457521.2:p.Ala194= | |
| ENST00000568260.2:c.602G>A | ENSP00000458128.2:n.602G>A | |
| ENST00000682061.1:c.*244G>A | ENSP00000508316.1:n.*244G>A | |
| ENST00000682177.1:c.582G>A | ENSP00000507409.1:p.Ala194= | |
| ENST00000682461.1:c.688G>A | ENSP00000507308.1:n.688G>A | |
| ENST00000682653.1:n.613G>A | ||
| ENST00000682657.1:c.265G>A | ENSP00000507753.1:p.Val89Ile | |
| ENST00000682721.1:c.*385G>A | ENSP00000507535.1:n.*385G>A | |
| ENST00000682843.1:c.*480G>A | ENSP00000508173.1:n.*480G>A | |
| ENST00000683003.1:c.424G>A | ENSP00000507576.1:p.Val142Ile | |
| ENST00000683133.1:c.766G>A | ENSP00000508108.1:n.766G>A | |
| ENST00000683228.1:n.613G>A | ||
| ENST00000683243.1:c.424G>A | ENSP00000507042.1:p.Val142Ile | |
| ENST00000683463.1:c.582G>A | ENSP00000507986.1:p.Ala194= | |
| ENST00000683548.1:n.613G>A | ||
| ENST00000683579.1:c.*480G>A | ENSP00000506867.1:n.*480G>A | |
| ENST00000683587.1:n.613G>A | ||
| ENST00000683681.1:c.582G>A | ENSP00000508110.1:p.Ala194= | |
| ENST00000683735.1:c.*480G>A | ENSP00000508336.1:n.*480G>A | |
| ENST00000683742.1:n.413G>A | ||
| ENST00000683853.1:c.582G>A | ENSP00000506834.1:p.Ala194= | |
| ENST00000683860.1:c.582G>A | ENSP00000507179.1:p.Ala194= | |
| ENST00000683884.1:c.582G>A | ENSP00000507004.1:p.Ala194= | |
| ENST00000684041.1:c.582G>A | ENSP00000508382.1:p.Ala194= | |
| ENST00000684125.1:c.582G>A | ENSP00000507320.1:p.Ala194= | |
| ENST00000684203.1:n.2420G>A | ||
| ENST00000684231.1:c.424G>A | ENSP00000507748.1:p.Val142Ile | |
| ENST00000684263.1:c.582G>A | ENSP00000508369.1:p.Ala194= | |
| ENST00000684305.1:c.1030G>A | ENSP00000506819.1:n.1030G>A | |
| ENST00000684415.1:c.582G>A | ENSP00000507227.1:p.Ala194= | |
| ENST00000684520.1:c.582G>A | ENSP00000506826.1:p.Ala194= | |
| ENST00000684602.1:c.*248G>A | ENSP00000507996.1:n.*248G>A | |
| ENST00000684667.1:c.913G>A | ENSP00000507003.1:n.913G>A | |
| ENST00000268097.10:c.582G>A MANE Select | ENSP00000268097.6:p.Ala194= | |
| ENST00000268097.9:c.582G>A | ENSP00000268097.5:p.Ala194= | |
| ENST00000379915.4:c.412+4336G>A | ENSP00000478716.1:n.412+4336G>A | |
| ENST00000563762.5:c.515G>A | ENSP00000456346.1:n.515G>A | |
| ENST00000566304.5:c.615G>A | ENSP00000455114.1:p.Ala205= | |
| ENST00000566672.5:c.424G>A | ENSP00000457037.1:p.Val142Ile | |
| ENST00000567027.5:c.454G>A | ||
| ENST00000567159.5:c.582G>A | ENSP00000456489.1:p.Ala194= | |
| ENST00000567411.5:c.*103G>A | ENSP00000455545.1:n.*103G>A | |
| ENST00000568260.1:c.583G>A | ||
| ENST00000568777.5:n.5986G>A | ||
| ENST00000569410.5:c.582G>A | ENSP00000457125.1:p.Ala194= | |
| ENST00000569509.5:n.429G>A | ||
| NM_000520.4:c.582G>A | NP_000511.2:p.Ala194= | |
| NM_000520.5:c.582G>A | NP_000511.2:p.Ala194= | |
| NM_001318825.1:c.615G>A | NP_001305754.1:p.Ala205= | |
| NR_134869.1:n.1083G>A | ||
| NM_000520.6:c.582G>A MANE Select | NP_000511.2:p.Ala194= | |
| NM_001318825.2:c.615G>A | NP_001305754.1:p.Ala205= | |
| NR_134869.2:n.624G>A | ||
| NR_134869.3:n.624G>A |