Linked Data
dbSNP Id:
rs17076812
gnomAD v2:
8-6279438-A-G
gnomAD v3:
8-6421917-A-G
gnomAD v4:
8-6421917-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6421917A>G , CM000670.2:g.6421917A>G | GRCh38 |
| NC_000008.10:g.6279438A>G , CM000670.1:g.6279438A>G | GRCh37 |
| NC_000008.9:g.6266846A>G | NCBI36 |
| NG_016619.1:g.20326A>G | |
| NG_016619.2:g.20326A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519480.6:c.233+7034A>G | ENSP00000430962.1:n.233+7034A>G | |
| ENST00000684782.1:n.288+7034A>G | ||
| ENST00000685179.1:c.227+7034A>G | ENSP00000510001.1:n.227+7034A>G | |
| ENST00000686750.1:c.233+7034A>G | ENSP00000509053.1:n.233+7034A>G | |
| ENST00000687720.1:c.*181+7034A>G | ENSP00000510728.1:n.*181+7034A>G | |
| ENST00000687874.1:n.248+7034A>G | ||
| ENST00000688099.1:c.*512+7034A>G | ENSP00000509622.1:n.*512+7034A>G | |
| ENST00000688388.1:c.233+7034A>G | ENSP00000510092.1:n.233+7034A>G | |
| ENST00000688452.1:c.233+7034A>G | ENSP00000510556.1:n.233+7034A>G | |
| ENST00000688912.1:n.244+7034A>G | ||
| ENST00000689348.1:c.233+7034A>G | ENSP00000509554.1:n.233+7034A>G | |
| ENST00000689633.1:c.233+7034A>G | ENSP00000509054.1:n.233+7034A>G | |
| ENST00000689736.1:c.233+7034A>G | ENSP00000509722.1:n.233+7034A>G | |
| ENST00000690159.1:c.*512+7034A>G | ENSP00000510482.1:n.*512+7034A>G | |
| ENST00000690518.1:c.115-9582A>G | ENSP00000509135.1:n.115-9582A>G | |
| ENST00000690682.1:c.*128+6634A>G | ENSP00000509896.1:n.*128+6634A>G | |
| ENST00000690708.1:c.233+7034A>G | ENSP00000510400.1:n.233+7034A>G | |
| ENST00000690826.1:c.233+7034A>G | ENSP00000510536.1:n.233+7034A>G | |
| ENST00000691435.1:c.233+7034A>G | ENSP00000510652.1:n.233+7034A>G | |
| ENST00000691655.1:c.*243+7034A>G | ENSP00000509652.1:n.*243+7034A>G | |
| ENST00000691738.1:n.441+7034A>G | ||
| ENST00000692836.1:c.233+7034A>G | ENSP00000509971.1:n.233+7034A>G | |
| ENST00000692938.1:c.233+7034A>G | ENSP00000509072.1:n.233+7034A>G | |
| ENST00000693231.1:c.115-9582A>G | ENSP00000510764.1:n.115-9582A>G | |
| ENST00000344683.10:c.233+7034A>G MANE Select | ENSP00000342924.5:n.233+7034A>G | |
| ENST00000344683.9:c.233+7034A>G | ENSP00000342924.5:n.233+7034A>G | |
| ENST00000519480.5:c.233+7034A>G | ENSP00000430962.1:n.233+7034A>G | |
| ENST00000522905.1:c.233+7034A>G | ENSP00000430768.1:n.233+7034A>G | |
| NM_001172574.1:c.233+7034A>G | NP_001166045.1:n.233+7034A>G | |
| NM_001172575.1:c.233+7034A>G | NP_001166046.1:n.233+7034A>G | |
| NM_024596.3:c.233+7034A>G | NP_078872.2:n.233+7034A>G | |
| XM_011534755.1:c.233+7034A>G | XP_011533057.1:n.233+7034A>G | |
| XM_011534756.1:c.233+7034A>G | XP_011533058.1:n.233+7034A>G | |
| XM_011534757.1:c.233+7034A>G | XP_011533059.1:n.233+7034A>G | |
| XM_011534758.1:c.233+7034A>G | XP_011533060.1:n.233+7034A>G | |
| XM_011534759.1:c.233+7034A>G | XP_011533061.1:n.233+7034A>G | |
| NM_001322042.1:c.233+7034A>G | NP_001308971.1:n.233+7034A>G | |
| NM_001322043.1:c.227+7034A>G | NP_001308972.1:n.227+7034A>G | |
| NM_001322045.1:c.131+7034A>G | NP_001308974.1:n.131+7034A>G | |
| NM_001363979.1:c.233+7034A>G | NP_001350908.1:n.233+7034A>G | |
| NM_001363980.1:c.233+7034A>G | NP_001350909.1:n.233+7034A>G | |
| NM_024596.4:c.233+7034A>G | NP_078872.2:n.233+7034A>G | |
| NR_136159.1:n.309+7034A>G | ||
| XM_011534755.3:c.233+7034A>G | XP_011533057.1:n.233+7034A>G | |
| XM_011534756.3:c.233+7034A>G | XP_011533058.1:n.233+7034A>G | |
| XM_011534757.3:c.233+7034A>G | XP_011533059.1:n.233+7034A>G | |
| XM_011534758.3:c.233+7034A>G | XP_011533060.1:n.233+7034A>G | |
| XM_011534759.3:c.233+7034A>G | XP_011533061.1:n.233+7034A>G | |
| XM_017013829.2:c.233+7034A>G | XP_016869318.1:n.233+7034A>G | |
| XM_017013831.2:c.233+7034A>G | XP_016869320.1:n.233+7034A>G | |
| XM_017013832.2:c.233+7034A>G | XP_016869321.1:n.233+7034A>G | |
| XM_017013833.2:c.233+7034A>G | XP_016869322.1:n.233+7034A>G | |
| XR_001745596.2:n.286+7034A>G | ||
| NM_024596.5:c.233+7034A>G MANE Select | NP_078872.3:n.233+7034A>G | |
| NM_001322042.2:c.233+7034A>G | NP_001308971.2:n.233+7034A>G | |
| NM_001363980.2:c.233+7034A>G | NP_001350909.1:n.233+7034A>G | |
| NM_001172574.2:c.233+7034A>G | NP_001166045.2:n.233+7034A>G | |
| NM_001172575.2:c.233+7034A>G | NP_001166046.1:n.233+7034A>G | |
| NM_001322043.2:c.227+7034A>G | NP_001308972.2:n.227+7034A>G | |
| NM_001322045.2:c.131+7034A>G | NP_001308974.2:n.131+7034A>G | |
| NR_136159.2:n.274+7034A>G |