Linked Data
ClinVar Variation Id:
287080
dbSNP Id:
rs145012038
ExAC:
15:72637878 C / T
gnomAD v2:
15-72637878-C-T
gnomAD v3:
15-72345537-C-T
gnomAD v4:
15-72345537-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345537C>T , CM000677.2:g.72345537C>T | GRCh38 |
| NC_000015.9:g.72637878C>T , CM000677.1:g.72637878C>T | GRCh37 |
| NC_000015.8:g.70424932C>T | NCBI36 |
| NG_009017.1:g.35643G>A | |
| NG_009017.2:g.35643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*95G>A | ENSP00000457521.2:n.*95G>A | |
| ENST00000682061.1:c.*1781G>A | ENSP00000508316.1:n.*1781G>A | |
| ENST00000682064.1:n.1662G>A | ||
| ENST00000682177.1:c.1478G>A | ENSP00000507409.1:n.1478G>A | |
| ENST00000682235.1:n.1458G>A | ||
| ENST00000682461.1:c.1541G>A | ENSP00000507308.1:n.1541G>A | |
| ENST00000682653.1:n.2439G>A | ||
| ENST00000682657.1:c.*1272G>A | ENSP00000507753.1:n.*1272G>A | |
| ENST00000682721.1:c.*1238G>A | ENSP00000507535.1:n.*1238G>A | |
| ENST00000682843.1:c.*1076G>A | ENSP00000508173.1:n.*1076G>A | |
| ENST00000683003.1:c.*1272G>A | ENSP00000507576.1:n.*1272G>A | |
| ENST00000683133.1:c.1619G>A | ENSP00000508108.1:n.1619G>A | |
| ENST00000683243.1:c.*588G>A | ENSP00000507042.1:n.*588G>A | |
| ENST00000683463.1:c.*924G>A | ENSP00000507986.1:n.*924G>A | |
| ENST00000683548.1:n.1893G>A | ||
| ENST00000683579.1:c.*1333G>A | ENSP00000506867.1:n.*1333G>A | |
| ENST00000683587.1:n.1966G>A | ||
| ENST00000683681.1:c.*113G>A | ENSP00000508110.1:n.*113G>A | |
| ENST00000683735.1:c.*1833G>A | ENSP00000508336.1:n.*1833G>A | |
| ENST00000683853.1:c.*240G>A | ENSP00000506834.1:n.*240G>A | |
| ENST00000683860.1:c.*555G>A | ENSP00000507179.1:n.*555G>A | |
| ENST00000683884.1:c.*762G>A | ENSP00000507004.1:n.*762G>A | |
| ENST00000684041.1:c.*568G>A | ENSP00000508382.1:n.*568G>A | |
| ENST00000684125.1:c.*95G>A | ENSP00000507320.1:n.*95G>A | |
| ENST00000684203.1:n.3884G>A | ||
| ENST00000684231.1:c.*845G>A | ENSP00000507748.1:n.*845G>A | |
| ENST00000684263.1:c.*1059G>A | ENSP00000508369.1:n.*1059G>A | |
| ENST00000684305.1:c.1883G>A | ENSP00000506819.1:n.1883G>A | |
| ENST00000684415.1:c.*986G>A | ENSP00000507227.1:n.*986G>A | |
| ENST00000684520.1:c.*694G>A | ENSP00000506826.1:n.*694G>A | |
| ENST00000684602.1:c.*1101G>A | ENSP00000507996.1:n.*1101G>A | |
| ENST00000684667.1:c.1766G>A | ENSP00000507003.1:n.1766G>A | |
| ENST00000268097.10:c.1435G>A MANE Select | ENSP00000268097.6:p.Ala479Thr | |
| ENST00000268097.9:c.1435G>A | ENSP00000268097.5:p.Ala479Thr | |
| ENST00000379915.4:c.517G>A | ENSP00000478716.1:p.Ala173Thr | |
| ENST00000564677.5:n.227G>A | ||
| ENST00000565873.1:n.346G>A | ||
| ENST00000566304.5:c.1468G>A | ENSP00000455114.1:p.Ala490Thr | |
| ENST00000567027.5:c.1050G>A | ||
| ENST00000567159.5:c.1435G>A | ENSP00000456489.1:p.Ala479Thr | |
| ENST00000567411.5:c.*956G>A | ENSP00000455545.1:n.*956G>A | |
| ENST00000568777.5:n.6655G>A | ||
| ENST00000569116.1:n.142G>A | ||
| NM_000520.4:c.1435G>A | NP_000511.2:p.Ala479Thr | |
| NM_000520.5:c.1435G>A | NP_000511.2:p.Ala479Thr | |
| NM_001318825.1:c.1468G>A | NP_001305754.1:p.Ala490Thr | |
| NR_134869.1:n.1679G>A | ||
| NM_000520.6:c.1435G>A MANE Select | NP_000511.2:p.Ala479Thr | |
| NM_001318825.2:c.1468G>A | NP_001305754.1:p.Ala490Thr | |
| NR_134869.2:n.1220G>A | ||
| NR_134869.3:n.1220G>A |