Linked Data
ClinVar Variation Id:
371490
dbSNP Id:
rs767041069
ExAC:
15:72638867 C / T
gnomAD v2:
15-72638867-C-T
gnomAD v4:
15-72346526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346526C>T , CM000677.2:g.72346526C>T | GRCh38 |
| NC_000015.9:g.72638867C>T , CM000677.1:g.72638867C>T | GRCh37 |
| NC_000015.8:g.70425921C>T | NCBI36 |
| NG_009017.1:g.34654G>A | |
| NG_009017.2:g.34654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-201G>A | ENSP00000457521.2:n.1074-201G>A | |
| ENST00000682061.1:c.*992+1G>A | ENSP00000508316.1:n.*992+1G>A | |
| ENST00000682064.1:n.673G>A | ||
| ENST00000682177.1:c.1373+1G>A | ENSP00000507409.1:n.1373+1G>A | |
| ENST00000682235.1:n.669+1G>A | ||
| ENST00000682461.1:c.1436+1G>A | ENSP00000507308.1:n.1436+1G>A | |
| ENST00000682653.1:n.1650+1G>A | ||
| ENST00000682657.1:c.*484-201G>A | ENSP00000507753.1:n.*484-201G>A | |
| ENST00000682721.1:c.*1133+1G>A | ENSP00000507535.1:n.*1133+1G>A | |
| ENST00000682843.1:c.*972-201G>A | ENSP00000508173.1:n.*972-201G>A | |
| ENST00000683003.1:c.*484-201G>A | ENSP00000507576.1:n.*484-201G>A | |
| ENST00000683133.1:c.1514+1G>A | ENSP00000508108.1:n.1514+1G>A | |
| ENST00000683243.1:c.*484-201G>A | ENSP00000507042.1:n.*484-201G>A | |
| ENST00000683463.1:c.*135+1G>A | ENSP00000507986.1:n.*135+1G>A | |
| ENST00000683548.1:n.1105-201G>A | ||
| ENST00000683579.1:c.*1228+1G>A | ENSP00000506867.1:n.*1228+1G>A | |
| ENST00000683587.1:n.1178-201G>A | ||
| ENST00000683681.1:c.1330+1G>A | ENSP00000508110.1:n.1330+1G>A | |
| ENST00000683735.1:c.*1045-201G>A | ENSP00000508336.1:n.*1045-201G>A | |
| ENST00000683853.1:c.*135+1G>A | ENSP00000506834.1:n.*135+1G>A | |
| ENST00000683860.1:c.1330+1G>A | ENSP00000507179.1:n.1330+1G>A | |
| ENST00000683884.1:c.1147-201G>A | ENSP00000507004.1:n.1147-201G>A | |
| ENST00000684041.1:c.1330+1G>A | ENSP00000508382.1:n.1330+1G>A | |
| ENST00000684125.1:c.1074-201G>A | ENSP00000507320.1:n.1074-201G>A | |
| ENST00000684203.1:n.3095+1G>A | ||
| ENST00000684231.1:c.*740+1G>A | ENSP00000507748.1:n.*740+1G>A | |
| ENST00000684263.1:c.*270+1G>A | ENSP00000508369.1:n.*270+1G>A | |
| ENST00000684305.1:c.1778+1G>A | ENSP00000506819.1:n.1778+1G>A | |
| ENST00000684415.1:c.*197+1G>A | ENSP00000507227.1:n.*197+1G>A | |
| ENST00000684520.1:c.1330+1G>A | ENSP00000506826.1:n.1330+1G>A | |
| ENST00000684602.1:c.*996+1G>A | ENSP00000507996.1:n.*996+1G>A | |
| ENST00000684667.1:c.1661+1G>A | ENSP00000507003.1:n.1661+1G>A | |
| ENST00000268097.10:c.1330+1G>A MANE Select | ENSP00000268097.6:n.1330+1G>A | |
| ENST00000268097.9:c.1330+1G>A | ENSP00000268097.5:n.1330+1G>A | |
| ENST00000379915.4:c.413-201G>A | ENSP00000478716.1:n.413-201G>A | |
| ENST00000563762.5:c.826-201G>A | ENSP00000456346.1:n.826-201G>A | |
| ENST00000566304.5:c.1363+1G>A | ENSP00000455114.1:n.1363+1G>A | |
| ENST00000566672.5:c.*740+1G>A | ENSP00000457037.1:n.*740+1G>A | |
| ENST00000567027.5:c.946-201G>A | ||
| ENST00000567159.5:c.1330+1G>A | ENSP00000456489.1:n.1330+1G>A | |
| ENST00000567411.5:c.*851+1G>A | ENSP00000455545.1:n.*851+1G>A | |
| ENST00000568777.5:n.6551-201G>A | ||
| ENST00000569410.5:c.*135+1G>A | ENSP00000457125.1:n.*135+1G>A | |
| NM_000520.4:c.1330+1G>A | NP_000511.2:n.1330+1G>A | |
| NM_000520.5:c.1330+1G>A | NP_000511.2:n.1330+1G>A | |
| NM_001318825.1:c.1363+1G>A | NP_001305754.1:n.1363+1G>A | |
| NR_134869.1:n.1575-201G>A | ||
| NM_000520.6:c.1330+1G>A MANE Select | NP_000511.2:n.1330+1G>A | |
| NM_001318825.2:c.1363+1G>A | NP_001305754.1:n.1363+1G>A | |
| NR_134869.2:n.1116-201G>A | ||
| NR_134869.3:n.1116-201G>A |