Linked Data
dbSNP Id:
rs11337
gnomAD v2:
8-41368286-T-G
gnomAD v3:
8-41510767-T-G
gnomAD v4:
8-41510767-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41510767T>G , CM000670.2:g.41510767T>G | GRCh38 |
| NC_000008.10:g.41368286T>G , CM000670.1:g.41368286T>G | GRCh37 |
| NC_000008.9:g.41487443T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405786.3:c.*1213T>G | ENSP00000386030.2:n.*1213T>G | |
| ENST00000518270.6:c.*1199T>G | ENSP00000429329.1:n.*1199T>G | |
| ENST00000694863.1:c.*1199T>G | ENSP00000511547.1:n.*1199T>G | |
| ENST00000694872.1:c.*1199T>G | ENSP00000511557.1:n.*1199T>G | |
| ENST00000694873.1:c.*1199T>G | ENSP00000511558.1:n.*1199T>G | |
| ENST00000694874.1:c.*1199T>G | ENSP00000511559.1:n.*1199T>G | |
| ENST00000694875.1:c.*1199T>G | ENSP00000511560.1:n.*1199T>G | |
| ENST00000694876.1:c.*1049T>G | ENSP00000511561.1:n.*1049T>G | |
| ENST00000694877.1:c.*1213T>G | ENSP00000511562.1:n.*1213T>G | |
| ENST00000694878.1:c.*1213T>G | ENSP00000511563.1:n.*1213T>G | |
| ENST00000694879.1:n.1470T>G | ||
| ENST00000694883.1:c.*1213T>G | ENSP00000511567.1:n.*1213T>G | |
| ENST00000694884.1:c.*1273T>G | ENSP00000511568.1:n.*1273T>G | |
| ENST00000694885.1:n.2720T>G | ||
| ENST00000694886.1:c.*1199T>G | ENSP00000511569.1:n.*1199T>G | |
| ENST00000694887.1:c.*1199T>G | ENSP00000511570.1:n.*1199T>G | |
| ENST00000694888.1:n.2722T>G | ||
| ENST00000694889.1:n.1797T>G | ||
| ENST00000694890.1:n.1442T>G | ||
| ENST00000694908.1:c.*1199T>G | ENSP00000511584.1:n.*1199T>G | |
| ENST00000694909.1:c.*1199T>G | ENSP00000511585.1:n.*1199T>G | |
| ENST00000694910.1:n.5153T>G | ||
| ENST00000694911.1:c.*3661T>G | ENSP00000511586.1:n.*3661T>G | |
| ENST00000694913.1:c.*1199T>G | ENSP00000511588.1:n.*1199T>G | |
| ENST00000694915.1:c.*1213T>G | ENSP00000511590.1:n.*1213T>G | |
| ENST00000694916.1:c.*1286T>G | ENSP00000511591.1:n.*1286T>G | |
| ENST00000520817.6:c.*1199T>G | ENSP00000429480.2:n.*1199T>G | |
| ENST00000521417.6:n.1449T>G | ||
| ENST00000523128.2:n.1987T>G | ||
| ENST00000687203.1:c.*1199T>G | ENSP00000510742.1:n.*1199T>G | |
| ENST00000357743.9:c.*1199T>G MANE Select | ENSP00000350378.4:n.*1199T>G | |
| ENST00000357743.8:c.*1199T>G | ENSP00000350378.4:n.*1199T>G | |
| ENST00000405786.2:c.*1213T>G | ENSP00000386030.2:n.*1213T>G | |
| ENST00000520817.5:c.*1199T>G | ENSP00000429480.1:n.*1199T>G | |
| NM_001002296.1:c.*1199T>G | NP_001002296.1:n.*1199T>G | |
| NM_001174124.1:c.*1213T>G | NP_001167595.1:n.*1213T>G | |
| NM_016099.2:c.*1199T>G | NP_057183.2:n.*1199T>G | |
| NM_001362979.1:c.*1199T>G | NP_001349908.1:n.*1199T>G | |
| NM_001362980.1:c.*1199T>G | NP_001349909.1:n.*1199T>G | |
| NR_156425.1:n.1676T>G | ||
| NR_156426.1:n.1654T>G | ||
| NR_156427.1:n.1558T>G | ||
| NM_001002296.2:c.*1199T>G MANE Select | NP_001002296.1:n.*1199T>G | |
| NM_001174124.2:c.*1213T>G | NP_001167595.1:n.*1213T>G | |
| NM_001362980.2:c.*1199T>G | NP_001349909.1:n.*1199T>G | |
| NM_016099.3:c.*1199T>G | NP_057183.2:n.*1199T>G | |
| NR_156425.2:n.1706T>G | ||
| NR_156426.2:n.1634T>G | ||
| NR_156427.2:n.1538T>G |