Linked Data
dbSNP Id:
rs149948017
gnomAD v2:
15-72637723-T-C
gnomAD v3:
15-72345382-T-C
gnomAD v4:
15-72345382-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345382T>C , CM000677.2:g.72345382T>C | GRCh38 |
| NC_000015.9:g.72637723T>C , CM000677.1:g.72637723T>C | GRCh37 |
| NC_000015.8:g.70424777T>C | NCBI36 |
| NG_009017.1:g.35798A>G | |
| NG_009017.2:g.35798A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.*250A>G | ENSP00000457521.2:n.*250A>G | |
| ENST00000682061.1:c.*1936A>G | ENSP00000508316.1:n.*1936A>G | |
| ENST00000682064.1:n.1753+64A>G | ||
| ENST00000682177.1:c.1633A>G | ENSP00000507409.1:n.1633A>G | |
| ENST00000682235.1:n.1549+64A>G | ||
| ENST00000682461.1:c.1632+64A>G | ENSP00000507308.1:n.1632+64A>G | |
| ENST00000682653.1:n.2594A>G | ||
| ENST00000682657.1:c.*1427A>G | ENSP00000507753.1:n.*1427A>G | |
| ENST00000682721.1:c.*1329+64A>G | ENSP00000507535.1:n.*1329+64A>G | |
| ENST00000682843.1:c.*1167+64A>G | ENSP00000508173.1:n.*1167+64A>G | |
| ENST00000683003.1:c.*1427A>G | ENSP00000507576.1:n.*1427A>G | |
| ENST00000683133.1:c.1710+64A>G | ENSP00000508108.1:n.1710+64A>G | |
| ENST00000683243.1:c.*679+64A>G | ENSP00000507042.1:n.*679+64A>G | |
| ENST00000683463.1:c.*1015+64A>G | ENSP00000507986.1:n.*1015+64A>G | |
| ENST00000683548.1:n.1984+64A>G | ||
| ENST00000683579.1:c.*1424+64A>G | ENSP00000506867.1:n.*1424+64A>G | |
| ENST00000683587.1:n.2057+64A>G | ||
| ENST00000683681.1:c.*204+64A>G | ENSP00000508110.1:n.*204+64A>G | |
| ENST00000683735.1:c.*1924+64A>G | ENSP00000508336.1:n.*1924+64A>G | |
| ENST00000683853.1:c.*395A>G | ENSP00000506834.1:n.*395A>G | |
| ENST00000683860.1:c.*646+64A>G | ENSP00000507179.1:n.*646+64A>G | |
| ENST00000683884.1:c.*917A>G | ENSP00000507004.1:n.*917A>G | |
| ENST00000684125.1:c.*186+64A>G | ENSP00000507320.1:n.*186+64A>G | |
| ENST00000684203.1:n.3975+64A>G | ||
| ENST00000684231.1:c.*936+64A>G | ENSP00000507748.1:n.*936+64A>G | |
| ENST00000684263.1:c.*1150+64A>G | ENSP00000508369.1:n.*1150+64A>G | |
| ENST00000684305.1:c.1974+64A>G | ENSP00000506819.1:n.1974+64A>G | |
| ENST00000684415.1:c.*1141A>G | ENSP00000507227.1:n.*1141A>G | |
| ENST00000684520.1:c.*849A>G | ENSP00000506826.1:n.*849A>G | |
| ENST00000684602.1:c.*1192+64A>G | ENSP00000507996.1:n.*1192+64A>G | |
| ENST00000684667.1:c.1857+64A>G | ENSP00000507003.1:n.1857+64A>G | |
| ENST00000268097.10:c.1526+64A>G MANE Select | ENSP00000268097.6:n.1526+64A>G | |
| ENST00000268097.9:c.1526+64A>G | ENSP00000268097.5:n.1526+64A>G | |
| ENST00000379915.4:c.608+64A>G | ENSP00000478716.1:n.608+64A>G | |
| ENST00000564677.5:n.318+64A>G | ||
| ENST00000565873.1:n.437+64A>G | ||
| ENST00000566304.5:c.1559+64A>G | ENSP00000455114.1:n.1559+64A>G | |
| ENST00000567027.5:c.1205A>G | ||
| ENST00000567411.5:c.*1047+64A>G | ENSP00000455545.1:n.*1047+64A>G | |
| ENST00000568777.5:n.6810A>G | ||
| ENST00000569116.1:n.297A>G | ||
| NM_000520.4:c.1526+64A>G | NP_000511.2:n.1526+64A>G | |
| NM_000520.5:c.1526+64A>G | NP_000511.2:n.1526+64A>G | |
| NM_001318825.1:c.1559+64A>G | NP_001305754.1:n.1559+64A>G | |
| NR_134869.1:n.1834A>G | ||
| NM_000520.6:c.1526+64A>G MANE Select | NP_000511.2:n.1526+64A>G | |
| NM_001318825.2:c.1559+64A>G | NP_001305754.1:n.1559+64A>G | |
| NR_134869.2:n.1375A>G | ||
| NR_134869.3:n.1375A>G |