Linked Data
ClinVar Variation Id:
1366981
ClinVar RCV Id:
RCV001932380
dbSNP Id:
rs1408716264
gnomAD v2:
15-72637856-C-T
gnomAD v4:
15-72345515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345515C>T , CM000677.2:g.72345515C>T | GRCh38 |
| NC_000015.9:g.72637856C>T , CM000677.1:g.72637856C>T | GRCh37 |
| NC_000015.8:g.70424910C>T | NCBI36 |
| NG_009017.1:g.35665G>A | |
| NG_009017.2:g.35665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*117G>A | ENSP00000457521.2:n.*117G>A | |
| ENST00000682061.1:c.*1803G>A | ENSP00000508316.1:n.*1803G>A | |
| ENST00000682064.1:n.1684G>A | ||
| ENST00000682177.1:c.1500G>A | ENSP00000507409.1:n.1500G>A | |
| ENST00000682235.1:n.1480G>A | ||
| ENST00000682461.1:c.1563G>A | ENSP00000507308.1:n.1563G>A | |
| ENST00000682653.1:n.2461G>A | ||
| ENST00000682657.1:c.*1294G>A | ENSP00000507753.1:n.*1294G>A | |
| ENST00000682721.1:c.*1260G>A | ENSP00000507535.1:n.*1260G>A | |
| ENST00000682843.1:c.*1098G>A | ENSP00000508173.1:n.*1098G>A | |
| ENST00000683003.1:c.*1294G>A | ENSP00000507576.1:n.*1294G>A | |
| ENST00000683133.1:c.1641G>A | ENSP00000508108.1:n.1641G>A | |
| ENST00000683243.1:c.*610G>A | ENSP00000507042.1:n.*610G>A | |
| ENST00000683463.1:c.*946G>A | ENSP00000507986.1:n.*946G>A | |
| ENST00000683548.1:n.1915G>A | ||
| ENST00000683579.1:c.*1355G>A | ENSP00000506867.1:n.*1355G>A | |
| ENST00000683587.1:n.1988G>A | ||
| ENST00000683681.1:c.*135G>A | ENSP00000508110.1:n.*135G>A | |
| ENST00000683735.1:c.*1855G>A | ENSP00000508336.1:n.*1855G>A | |
| ENST00000683853.1:c.*262G>A | ENSP00000506834.1:n.*262G>A | |
| ENST00000683860.1:c.*577G>A | ENSP00000507179.1:n.*577G>A | |
| ENST00000683884.1:c.*784G>A | ENSP00000507004.1:n.*784G>A | |
| ENST00000684041.1:c.*590G>A | ENSP00000508382.1:n.*590G>A | |
| ENST00000684125.1:c.*117G>A | ENSP00000507320.1:n.*117G>A | |
| ENST00000684203.1:n.3906G>A | ||
| ENST00000684231.1:c.*867G>A | ENSP00000507748.1:n.*867G>A | |
| ENST00000684263.1:c.*1081G>A | ENSP00000508369.1:n.*1081G>A | |
| ENST00000684305.1:c.1905G>A | ENSP00000506819.1:n.1905G>A | |
| ENST00000684415.1:c.*1008G>A | ENSP00000507227.1:n.*1008G>A | |
| ENST00000684520.1:c.*716G>A | ENSP00000506826.1:n.*716G>A | |
| ENST00000684602.1:c.*1123G>A | ENSP00000507996.1:n.*1123G>A | |
| ENST00000684667.1:c.1788G>A | ENSP00000507003.1:n.1788G>A | |
| ENST00000268097.10:c.1457G>A MANE Select | ENSP00000268097.6:p.Ser486Asn | |
| ENST00000268097.9:c.1457G>A | ENSP00000268097.5:p.Ser486Asn | |
| ENST00000379915.4:c.539G>A | ENSP00000478716.1:p.Ser180Asn | |
| ENST00000564677.5:n.249G>A | ||
| ENST00000565873.1:n.368G>A | ||
| ENST00000566304.5:c.1490G>A | ENSP00000455114.1:p.Ser497Asn | |
| ENST00000567027.5:c.1072G>A | ||
| ENST00000567159.5:c.1457G>A | ENSP00000456489.1:p.Ser486Asn | |
| ENST00000567411.5:c.*978G>A | ENSP00000455545.1:n.*978G>A | |
| ENST00000568777.5:n.6677G>A | ||
| ENST00000569116.1:n.164G>A | ||
| NM_000520.4:c.1457G>A | NP_000511.2:p.Ser486Asn | |
| NM_000520.5:c.1457G>A | NP_000511.2:p.Ser486Asn | |
| NM_001318825.1:c.1490G>A | NP_001305754.1:p.Ser497Asn | |
| NR_134869.1:n.1701G>A | ||
| NM_000520.6:c.1457G>A MANE Select | NP_000511.2:p.Ser486Asn | |
| NM_001318825.2:c.1490G>A | NP_001305754.1:p.Ser497Asn | |
| NR_134869.2:n.1242G>A | ||
| NR_134869.3:n.1242G>A |