Linked Data
ClinVar Variation Id:
1140263
ClinVar RCV Id:
RCV001477258
dbSNP Id:
rs1204984002
gnomAD v2:
15-72637898-G-A
gnomAD v3:
15-72345557-G-A
gnomAD v4:
15-72345557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345557G>A , CM000677.2:g.72345557G>A | GRCh38 |
| NC_000015.9:g.72637898G>A , CM000677.1:g.72637898G>A | GRCh37 |
| NC_000015.8:g.70424952G>A | NCBI36 |
| NG_009017.1:g.35623C>T | |
| NG_009017.2:g.35623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*82-7C>T | ENSP00000457521.2:n.*82-7C>T | |
| ENST00000682061.1:c.*1761C>T | ENSP00000508316.1:n.*1761C>T | |
| ENST00000682064.1:n.1642C>T | ||
| ENST00000682177.1:c.1465-7C>T | ENSP00000507409.1:n.1465-7C>T | |
| ENST00000682235.1:n.1438C>T | ||
| ENST00000682461.1:c.1528-7C>T | ENSP00000507308.1:n.1528-7C>T | |
| ENST00000682653.1:n.2419C>T | ||
| ENST00000682657.1:c.*1252C>T | ENSP00000507753.1:n.*1252C>T | |
| ENST00000682721.1:c.*1225-7C>T | ENSP00000507535.1:n.*1225-7C>T | |
| ENST00000682843.1:c.*1063-7C>T | ENSP00000508173.1:n.*1063-7C>T | |
| ENST00000683003.1:c.*1252C>T | ENSP00000507576.1:n.*1252C>T | |
| ENST00000683133.1:c.1606-7C>T | ENSP00000508108.1:n.1606-7C>T | |
| ENST00000683243.1:c.*575-7C>T | ENSP00000507042.1:n.*575-7C>T | |
| ENST00000683463.1:c.*904C>T | ENSP00000507986.1:n.*904C>T | |
| ENST00000683548.1:n.1873C>T | ||
| ENST00000683579.1:c.*1320-7C>T | ENSP00000506867.1:n.*1320-7C>T | |
| ENST00000683587.1:n.1946C>T | ||
| ENST00000683681.1:c.*100-7C>T | ENSP00000508110.1:n.*100-7C>T | |
| ENST00000683735.1:c.*1813C>T | ENSP00000508336.1:n.*1813C>T | |
| ENST00000683853.1:c.*227-7C>T | ENSP00000506834.1:n.*227-7C>T | |
| ENST00000683860.1:c.*535C>T | ENSP00000507179.1:n.*535C>T | |
| ENST00000683884.1:c.*742C>T | ENSP00000507004.1:n.*742C>T | |
| ENST00000684041.1:c.*555-7C>T | ENSP00000508382.1:n.*555-7C>T | |
| ENST00000684125.1:c.*82-7C>T | ENSP00000507320.1:n.*82-7C>T | |
| ENST00000684203.1:n.3864C>T | ||
| ENST00000684231.1:c.*832-7C>T | ENSP00000507748.1:n.*832-7C>T | |
| ENST00000684263.1:c.*1039C>T | ENSP00000508369.1:n.*1039C>T | |
| ENST00000684305.1:c.1870-7C>T | ENSP00000506819.1:n.1870-7C>T | |
| ENST00000684415.1:c.*966C>T | ENSP00000507227.1:n.*966C>T | |
| ENST00000684520.1:c.*674C>T | ENSP00000506826.1:n.*674C>T | |
| ENST00000684602.1:c.*1088-7C>T | ENSP00000507996.1:n.*1088-7C>T | |
| ENST00000684667.1:c.1753-7C>T | ENSP00000507003.1:n.1753-7C>T | |
| ENST00000268097.10:c.1422-7C>T MANE Select | ENSP00000268097.6:n.1422-7C>T | |
| ENST00000268097.9:c.1422-7C>T | ENSP00000268097.5:n.1422-7C>T | |
| ENST00000379915.4:c.504-7C>T | ENSP00000478716.1:n.504-7C>T | |
| ENST00000564677.5:n.214-7C>T | ||
| ENST00000565873.1:n.326C>T | ||
| ENST00000566304.5:c.1455-7C>T | ENSP00000455114.1:n.1455-7C>T | |
| ENST00000567027.5:c.1037-7C>T | ||
| ENST00000567159.5:c.1422-7C>T | ENSP00000456489.1:n.1422-7C>T | |
| ENST00000567411.5:c.*943-7C>T | ENSP00000455545.1:n.*943-7C>T | |
| ENST00000568777.5:n.6642-7C>T | ||
| ENST00000569116.1:n.129-7C>T | ||
| NM_000520.4:c.1422-7C>T | NP_000511.2:n.1422-7C>T | |
| NM_000520.5:c.1422-7C>T | NP_000511.2:n.1422-7C>T | |
| NM_001318825.1:c.1455-7C>T | NP_001305754.1:n.1455-7C>T | |
| NR_134869.1:n.1666-7C>T | ||
| NM_000520.6:c.1422-7C>T MANE Select | NP_000511.2:n.1422-7C>T | |
| NM_001318825.2:c.1455-7C>T | NP_001305754.1:n.1455-7C>T | |
| NR_134869.2:n.1207-7C>T | ||
| NR_134869.3:n.1207-7C>T |