Linked Data
ClinVar Variation Id:
299831
ClinVar RCV Id:
RCV000334793
dbSNP Id:
rs12571836
ExAC:
10:27827484 A / G
gnomAD v2:
10-27827484-A-G
gnomAD v3:
10-27538555-A-G
gnomAD v4:
10-27538555-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27538555A>G , CM000672.2:g.27538555A>G | GRCh38 |
| NC_000010.10:g.27827484A>G , CM000672.1:g.27827484A>G | GRCh37 |
| NC_000010.9:g.27867490A>G | NCBI36 |
| NG_032035.1:g.39382A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.*658A>G | ENSP00000439321.2:n.*658A>G | |
| ENST00000611151.5:c.*913A>G | ENSP00000483927.2:n.*913A>G | |
| ENST00000621805.5:c.*504A>G | ENSP00000478479.1:n.*504A>G | |
| ENST00000682082.1:c.*171+333A>G | ENSP00000507542.1:n.*171+333A>G | |
| ENST00000682173.1:c.803A>G | ||
| ENST00000682181.1:c.*1430A>G | ENSP00000507392.1:n.*1430A>G | |
| ENST00000682347.1:c.68-4198A>G | ENSP00000508355.1:n.68-4198A>G | |
| ENST00000682389.1:c.*504A>G | ENSP00000507154.1:n.*504A>G | |
| ENST00000682518.1:n.1140A>G | ||
| ENST00000682668.1:c.1478A>G | ||
| ENST00000682777.1:n.2292A>G | ||
| ENST00000682852.1:c.*970A>G | ENSP00000508341.1:n.*970A>G | |
| ENST00000682963.1:c.*504A>G | ENSP00000507532.1:n.*504A>G | |
| ENST00000683030.1:c.150+530A>G | ||
| ENST00000683419.1:c.*846A>G | ENSP00000508094.1:n.*846A>G | |
| ENST00000683755.1:c.*713A>G | ENSP00000506993.1:n.*713A>G | |
| ENST00000683816.1:c.*1048A>G | ENSP00000507834.1:n.*1048A>G | |
| ENST00000683915.1:c.153+527A>G | ||
| ENST00000684134.1:n.6085A>G | ||
| ENST00000684191.1:c.68-3447A>G | ENSP00000508185.1:n.68-3447A>G | |
| ENST00000684393.1:c.*1430A>G | ENSP00000507136.1:n.*1430A>G | |
| ENST00000684457.1:c.150+530A>G | ||
| ENST00000356940.11:c.*504A>G MANE Select | ENSP00000349415.7:n.*504A>G | |
| ENST00000356940.10:c.*504A>G | ENSP00000349415.6:n.*504A>G | |
| ENST00000535776.5:c.*504A>G | ENSP00000439321.1:n.*504A>G | |
| ENST00000611151.4:c.*504A>G | ENSP00000483927.1:n.*504A>G | |
| ENST00000621805.4:c.1212A>G | ENSP00000478479.1:n.1212A>G | |
| NM_001256410.1:c.*504A>G | NP_001243339.1:n.*504A>G | |
| NM_001256411.1:c.*464A>G | NP_001243340.1:n.*464A>G | |
| NM_001256412.1:c.*504A>G | NP_001243341.1:n.*504A>G | |
| NM_001256415.1:c.*504A>G | NP_001243344.1:n.*504A>G | |
| NM_021252.4:c.*504A>G | NP_067075.1:n.*504A>G | |
| NR_046172.1:n.1259A>G | ||
| NM_001256410.2:c.*504A>G | NP_001243339.1:n.*504A>G | |
| NM_001256411.2:c.*464A>G | NP_001243340.1:n.*464A>G | |
| NM_001256412.2:c.*504A>G | NP_001243341.1:n.*504A>G | |
| NM_001256415.2:c.*504A>G | NP_001243344.1:n.*504A>G | |
| NM_021252.5:c.*504A>G MANE Select | NP_067075.1:n.*504A>G | |
| NR_046172.2:n.1129A>G |