Linked Data
dbSNP Id:
rs757010519
ExAC:
15:72638902 C / A
gnomAD v2:
15-72638902-C-A
gnomAD v3:
15-72346561-C-A
gnomAD v4:
15-72346561-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346561C>A , CM000677.2:g.72346561C>A | GRCh38 |
| NC_000015.9:g.72638902C>A , CM000677.1:g.72638902C>A | GRCh37 |
| NC_000015.8:g.70425956C>A | NCBI36 |
| NG_009017.1:g.34619G>T | |
| NG_009017.2:g.34619G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-236G>T | ENSP00000457521.2:n.1074-236G>T | |
| ENST00000682061.1:c.*958G>T | ENSP00000508316.1:n.*958G>T | |
| ENST00000682064.1:n.638G>T | ||
| ENST00000682177.1:c.1339G>T | ENSP00000507409.1:n.1339G>T | |
| ENST00000682235.1:n.635G>T | ||
| ENST00000682461.1:c.1402G>T | ENSP00000507308.1:n.1402G>T | |
| ENST00000682653.1:n.1616G>T | ||
| ENST00000682657.1:c.*484-236G>T | ENSP00000507753.1:n.*484-236G>T | |
| ENST00000682721.1:c.*1099G>T | ENSP00000507535.1:n.*1099G>T | |
| ENST00000682843.1:c.*972-236G>T | ENSP00000508173.1:n.*972-236G>T | |
| ENST00000683003.1:c.*484-236G>T | ENSP00000507576.1:n.*484-236G>T | |
| ENST00000683133.1:c.1480G>T | ENSP00000508108.1:n.1480G>T | |
| ENST00000683243.1:c.*484-236G>T | ENSP00000507042.1:n.*484-236G>T | |
| ENST00000683463.1:c.*101G>T | ENSP00000507986.1:n.*101G>T | |
| ENST00000683548.1:n.1105-236G>T | ||
| ENST00000683579.1:c.*1194G>T | ENSP00000506867.1:n.*1194G>T | |
| ENST00000683587.1:n.1178-236G>T | ||
| ENST00000683681.1:c.1296G>T | ENSP00000508110.1:p.Lys432Asn | |
| ENST00000683735.1:c.*1045-236G>T | ENSP00000508336.1:n.*1045-236G>T | |
| ENST00000683853.1:c.*101G>T | ENSP00000506834.1:n.*101G>T | |
| ENST00000683860.1:c.1296G>T | ENSP00000507179.1:p.Lys432Asn | |
| ENST00000683884.1:c.1147-236G>T | ENSP00000507004.1:n.1147-236G>T | |
| ENST00000684041.1:c.1296G>T | ENSP00000508382.1:p.Lys432Asn | |
| ENST00000684125.1:c.1074-236G>T | ENSP00000507320.1:n.1074-236G>T | |
| ENST00000684203.1:n.3061G>T | ||
| ENST00000684231.1:c.*706G>T | ENSP00000507748.1:n.*706G>T | |
| ENST00000684263.1:c.*236G>T | ENSP00000508369.1:n.*236G>T | |
| ENST00000684305.1:c.1744G>T | ENSP00000506819.1:n.1744G>T | |
| ENST00000684415.1:c.*163G>T | ENSP00000507227.1:n.*163G>T | |
| ENST00000684520.1:c.1296G>T | ENSP00000506826.1:p.Lys432Asn | |
| ENST00000684602.1:c.*962G>T | ENSP00000507996.1:n.*962G>T | |
| ENST00000684667.1:c.1627G>T | ENSP00000507003.1:n.1627G>T | |
| ENST00000268097.10:c.1296G>T MANE Select | ENSP00000268097.6:p.Lys432Asn | |
| ENST00000268097.9:c.1296G>T | ENSP00000268097.5:p.Lys432Asn | |
| ENST00000379915.4:c.413-236G>T | ENSP00000478716.1:n.413-236G>T | |
| ENST00000563762.5:c.826-236G>T | ENSP00000456346.1:n.826-236G>T | |
| ENST00000566304.5:c.1329G>T | ENSP00000455114.1:p.Lys443Asn | |
| ENST00000566672.5:c.*706G>T | ENSP00000457037.1:n.*706G>T | |
| ENST00000567027.5:c.946-236G>T | ||
| ENST00000567159.5:c.1296G>T | ENSP00000456489.1:p.Lys432Asn | |
| ENST00000567411.5:c.*817G>T | ENSP00000455545.1:n.*817G>T | |
| ENST00000568777.5:n.6551-236G>T | ||
| ENST00000569410.5:c.*101G>T | ENSP00000457125.1:n.*101G>T | |
| NM_000520.4:c.1296G>T | NP_000511.2:p.Lys432Asn | |
| NM_000520.5:c.1296G>T | NP_000511.2:p.Lys432Asn | |
| NM_001318825.1:c.1329G>T | NP_001305754.1:p.Lys443Asn | |
| NR_134869.1:n.1575-236G>T | ||
| NM_000520.6:c.1296G>T MANE Select | NP_000511.2:p.Lys432Asn | |
| NM_001318825.2:c.1329G>T | NP_001305754.1:p.Lys443Asn | |
| NR_134869.2:n.1116-236G>T | ||
| NR_134869.3:n.1116-236G>T |