Linked Data
ClinVar Variation Id:
188954
dbSNP Id:
rs786204585
gnomAD v3:
15-72344139-G-A
gnomAD v4:
15-72344139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72344139G>A , CM000677.2:g.72344139G>A | GRCh38 |
| NC_000015.9:g.72636480G>A , CM000677.1:g.72636480G>A | GRCh37 |
| NC_000015.8:g.70423534G>A | NCBI36 |
| NG_009017.1:g.37041C>T | |
| NG_009017.2:g.37041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682064.1:n.1755C>T | ||
| ENST00000682235.1:n.1551C>T | ||
| ENST00000682461.1:c.1634C>T | ENSP00000507308.1:n.1634C>T | |
| ENST00000682653.1:n.3837C>T | ||
| ENST00000682721.1:c.*1331C>T | ENSP00000507535.1:n.*1331C>T | |
| ENST00000682843.1:c.*1169C>T | ENSP00000508173.1:n.*1169C>T | |
| ENST00000683133.1:c.1712C>T | ENSP00000508108.1:n.1712C>T | |
| ENST00000683243.1:c.*681C>T | ENSP00000507042.1:n.*681C>T | |
| ENST00000683463.1:c.*1017C>T | ENSP00000507986.1:n.*1017C>T | |
| ENST00000683548.1:n.1986C>T | ||
| ENST00000683579.1:c.*1426C>T | ENSP00000506867.1:n.*1426C>T | |
| ENST00000683587.1:n.2059C>T | ||
| ENST00000683681.1:c.*206C>T | ENSP00000508110.1:n.*206C>T | |
| ENST00000683735.1:c.*1926C>T | ENSP00000508336.1:n.*1926C>T | |
| ENST00000683853.1:c.*1638C>T | ENSP00000506834.1:n.*1638C>T | |
| ENST00000683860.1:c.*648C>T | ENSP00000507179.1:n.*648C>T | |
| ENST00000684125.1:c.*188C>T | ENSP00000507320.1:n.*188C>T | |
| ENST00000684203.1:n.3977C>T | ||
| ENST00000684231.1:c.*938C>T | ENSP00000507748.1:n.*938C>T | |
| ENST00000684263.1:c.*1152C>T | ENSP00000508369.1:n.*1152C>T | |
| ENST00000684305.1:c.1976C>T | ENSP00000506819.1:n.1976C>T | |
| ENST00000684602.1:c.*1194C>T | ENSP00000507996.1:n.*1194C>T | |
| ENST00000684667.1:c.1859C>T | ENSP00000507003.1:n.1859C>T | |
| ENST00000268097.10:c.1528C>T MANE Select | ENSP00000268097.6:p.Arg510Ter | |
| ENST00000268097.9:c.1528C>T | ENSP00000268097.5:p.Arg510Ter | |
| ENST00000379915.4:c.608+1307C>T | ENSP00000478716.1:n.608+1307C>T | |
| ENST00000564677.5:n.320C>T | ||
| ENST00000565873.1:n.439C>T | ||
| ENST00000566304.5:c.1561C>T | ENSP00000455114.1:p.Arg521Ter | |
| ENST00000567411.5:c.*1049C>T | ENSP00000455545.1:n.*1049C>T | |
| NM_000520.4:c.1528C>T | NP_000511.2:p.Arg510Ter | |
| NM_000520.5:c.1528C>T | NP_000511.2:p.Arg510Ter | |
| NM_001318825.1:c.1561C>T | NP_001305754.1:p.Arg521Ter | |
| NM_000520.6:c.1528C>T MANE Select | NP_000511.2:p.Arg510Ter | |
| NM_001318825.2:c.1561C>T | NP_001305754.1:p.Arg521Ter |