Linked Data
ClinVar Variation Id:
100729
dbSNP Id:
rs587779406
ExAC:
15:72638893 G / A
gnomAD v2:
15-72638893-G-A
gnomAD v3:
15-72346552-G-A
gnomAD v4:
15-72346552-G-A
COSMIC:
COSM81263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346552G>A , CM000677.2:g.72346552G>A | GRCh38 |
| NC_000015.9:g.72638893G>A , CM000677.1:g.72638893G>A | GRCh37 |
| NC_000015.8:g.70425947G>A | NCBI36 |
| NG_009017.1:g.34628C>T | |
| NG_009017.2:g.34628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-227C>T | ENSP00000457521.2:n.1074-227C>T | |
| ENST00000682061.1:c.*967C>T | ENSP00000508316.1:n.*967C>T | |
| ENST00000682064.1:n.647C>T | ||
| ENST00000682177.1:c.1348C>T | ENSP00000507409.1:n.1348C>T | |
| ENST00000682235.1:n.644C>T | ||
| ENST00000682461.1:c.1411C>T | ENSP00000507308.1:n.1411C>T | |
| ENST00000682653.1:n.1625C>T | ||
| ENST00000682657.1:c.*484-227C>T | ENSP00000507753.1:n.*484-227C>T | |
| ENST00000682721.1:c.*1108C>T | ENSP00000507535.1:n.*1108C>T | |
| ENST00000682843.1:c.*972-227C>T | ENSP00000508173.1:n.*972-227C>T | |
| ENST00000683003.1:c.*484-227C>T | ENSP00000507576.1:n.*484-227C>T | |
| ENST00000683133.1:c.1489C>T | ENSP00000508108.1:n.1489C>T | |
| ENST00000683243.1:c.*484-227C>T | ENSP00000507042.1:n.*484-227C>T | |
| ENST00000683463.1:c.*110C>T | ENSP00000507986.1:n.*110C>T | |
| ENST00000683548.1:n.1105-227C>T | ||
| ENST00000683579.1:c.*1203C>T | ENSP00000506867.1:n.*1203C>T | |
| ENST00000683587.1:n.1178-227C>T | ||
| ENST00000683681.1:c.1305C>T | ENSP00000508110.1:p.Tyr435= | |
| ENST00000683735.1:c.*1045-227C>T | ENSP00000508336.1:n.*1045-227C>T | |
| ENST00000683853.1:c.*110C>T | ENSP00000506834.1:n.*110C>T | |
| ENST00000683860.1:c.1305C>T | ENSP00000507179.1:p.Tyr435= | |
| ENST00000683884.1:c.1147-227C>T | ENSP00000507004.1:n.1147-227C>T | |
| ENST00000684041.1:c.1305C>T | ENSP00000508382.1:p.Tyr435= | |
| ENST00000684125.1:c.1074-227C>T | ENSP00000507320.1:n.1074-227C>T | |
| ENST00000684203.1:n.3070C>T | ||
| ENST00000684231.1:c.*715C>T | ENSP00000507748.1:n.*715C>T | |
| ENST00000684263.1:c.*245C>T | ENSP00000508369.1:n.*245C>T | |
| ENST00000684305.1:c.1753C>T | ENSP00000506819.1:n.1753C>T | |
| ENST00000684415.1:c.*172C>T | ENSP00000507227.1:n.*172C>T | |
| ENST00000684520.1:c.1305C>T | ENSP00000506826.1:p.Tyr435= | |
| ENST00000684602.1:c.*971C>T | ENSP00000507996.1:n.*971C>T | |
| ENST00000684667.1:c.1636C>T | ENSP00000507003.1:n.1636C>T | |
| ENST00000268097.10:c.1305C>T MANE Select | ENSP00000268097.6:p.Tyr435= | |
| ENST00000268097.9:c.1305C>T | ENSP00000268097.5:p.Tyr435= | |
| ENST00000379915.4:c.413-227C>T | ENSP00000478716.1:n.413-227C>T | |
| ENST00000563762.5:c.826-227C>T | ENSP00000456346.1:n.826-227C>T | |
| ENST00000566304.5:c.1338C>T | ENSP00000455114.1:p.Tyr446= | |
| ENST00000566672.5:c.*715C>T | ENSP00000457037.1:n.*715C>T | |
| ENST00000567027.5:c.946-227C>T | ||
| ENST00000567159.5:c.1305C>T | ENSP00000456489.1:p.Tyr435= | |
| ENST00000567411.5:c.*826C>T | ENSP00000455545.1:n.*826C>T | |
| ENST00000568777.5:n.6551-227C>T | ||
| ENST00000569410.5:c.*110C>T | ENSP00000457125.1:n.*110C>T | |
| NM_000520.4:c.1305C>T | NP_000511.2:p.Tyr435= | |
| NM_000520.5:c.1305C>T | NP_000511.2:p.Tyr435= | |
| NM_001318825.1:c.1338C>T | NP_001305754.1:p.Tyr446= | |
| NR_134869.1:n.1575-227C>T | ||
| NM_000520.6:c.1305C>T MANE Select | NP_000511.2:p.Tyr435= | |
| NM_001318825.2:c.1338C>T | NP_001305754.1:p.Tyr446= | |
| NR_134869.2:n.1116-227C>T | ||
| NR_134869.3:n.1116-227C>T |