Linked Data
dbSNP Id:
rs1224004889
gnomAD v2:
5-118850606-A-G
gnomAD v3:
5-119514911-A-G
gnomAD v4:
5-119514911-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119514911A>G , CM000667.2:g.119514911A>G | GRCh38 |
| NC_000005.9:g.118850606A>G , CM000667.1:g.118850606A>G | GRCh37 |
| NC_000005.8:g.118878505A>G | NCBI36 |
| NG_008182.1:g.67459A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1369-70A>G | ENSP00000426272.2:n.1369-70A>G | |
| ENST00000518349.6:c.682-70A>G | ENSP00000507185.1:n.682-70A>G | |
| ENST00000520244.6:n.3106A>G | ||
| ENST00000682445.1:c.*1319-70A>G | ENSP00000508061.1:n.*1319-70A>G | |
| ENST00000682531.1:n.3330-70A>G | ||
| ENST00000682626.1:c.*944-70A>G | ENSP00000507857.1:n.*944-70A>G | |
| ENST00000682996.1:c.1366-70A>G | ENSP00000507792.1:n.1366-70A>G | |
| ENST00000683265.1:n.3224-70A>G | ||
| ENST00000683335.1:n.2770A>G | ||
| ENST00000683371.1:c.*1568-70A>G | ENSP00000508376.1:n.*1568-70A>G | |
| ENST00000683372.1:n.3448-70A>G | ||
| ENST00000683390.1:n.3128-70A>G | ||
| ENST00000683549.1:n.3052-70A>G | ||
| ENST00000683936.1:c.*3016-70A>G | ENSP00000507721.1:n.*3016-70A>G | |
| ENST00000683974.1:n.3213-116A>G | ||
| ENST00000683996.1:c.*648-70A>G | ENSP00000507060.1:n.*648-70A>G | |
| ENST00000684131.1:n.2970-70A>G | ||
| ENST00000684160.1:c.*1128-70A>G | ENSP00000507821.1:n.*1128-70A>G | |
| ENST00000684214.1:c.1438-70A>G | ENSP00000508071.1:n.1438-70A>G | |
| ENST00000414835.7:c.1513-70A>G | ENSP00000411960.3:n.1513-70A>G | |
| ENST00000510025.7:c.1438-70A>G MANE Select | ENSP00000424940.3:n.1438-70A>G | |
| ENST00000643250.1:c.*1310-70A>G | ENSP00000494737.1:n.*1310-70A>G | |
| ENST00000644146.1:c.*2709-70A>G | ENSP00000494808.1:n.*2709-70A>G | |
| ENST00000645099.1:c.997-70A>G | ENSP00000496091.1:n.997-70A>G | |
| ENST00000645702.1:c.*841-70A>G | ENSP00000496432.1:n.*841-70A>G | |
| ENST00000645832.1:c.*1323-70A>G | ENSP00000494316.1:n.*1323-70A>G | |
| ENST00000646058.1:c.1438-70A>G | ENSP00000493579.1:n.1438-70A>G | |
| ENST00000646355.1:c.*1444-70A>G | ENSP00000493801.1:n.*1444-70A>G | |
| ENST00000646554.1:c.*1416-70A>G | ENSP00000494542.1:n.*1416-70A>G | |
| ENST00000647335.1:c.*1405-70A>G | ENSP00000495180.1:n.*1405-70A>G | |
| ENST00000647342.1:c.*1369-70A>G | ENSP00000494992.1:n.*1369-70A>G | |
| ENST00000256216.10:c.1438-70A>G | ENSP00000256216.6:n.1438-70A>G | |
| ENST00000414835.6:c.1018-70A>G | ENSP00000411960.2:n.1018-70A>G | |
| ENST00000442060.7:c.1503-70A>G | ENSP00000390208.3:n.1503-70A>G | |
| ENST00000504811.5:c.1513-70A>G | ENSP00000420914.1:n.1513-70A>G | |
| ENST00000509514.5:c.652-70A>G | ENSP00000426272.1:n.652-70A>G | |
| ENST00000510025.5:c.1366-70A>G | ENSP00000424940.1:n.1366-70A>G | |
| ENST00000513628.5:c.1027-70A>G | ENSP00000425993.1:n.1027-70A>G | |
| ENST00000515235.6:n.3191-70A>G | ||
| ENST00000515320.5:c.1384-70A>G | ENSP00000424613.1:n.1384-70A>G | |
| ENST00000518349.5:n.572-70A>G | ||
| ENST00000520244.5:n.221-70A>G | ||
| ENST00000522415.5:n.105-70A>G | ||
| NM_000414.3:c.1438-70A>G | NP_000405.1:n.1438-70A>G | |
| NM_001199291.2:c.1513-70A>G | NP_001186220.1:n.1513-70A>G | |
| NM_001199292.1:c.1384-70A>G | NP_001186221.1:n.1384-70A>G | |
| NM_001292027.1:c.1366-70A>G | NP_001278956.1:n.1366-70A>G | |
| NM_001292028.1:c.1018-70A>G | NP_001278957.1:n.1018-70A>G | |
| NM_000414.4:c.1438-70A>G MANE Select | NP_000405.1:n.1438-70A>G | |
| NM_001199291.3:c.1513-70A>G | NP_001186220.1:n.1513-70A>G | |
| NM_001199292.2:c.1384-70A>G | NP_001186221.1:n.1384-70A>G | |
| NM_001292027.2:c.1366-70A>G | NP_001278956.1:n.1366-70A>G | |
| NM_001292028.2:c.1018-70A>G | NP_001278957.1:n.1018-70A>G | |
| NM_001374497.1:c.1429-70A>G | NP_001361426.1:n.1429-70A>G | |
| NM_001374498.1:c.1366-70A>G | NP_001361427.1:n.1366-70A>G | |
| NM_001374499.1:c.1111-70A>G | NP_001361428.1:n.1111-70A>G | |
| NM_001374500.1:c.997-70A>G | NP_001361429.1:n.997-70A>G | |
| NM_001374501.1:c.1027-70A>G | NP_001361430.1:n.1027-70A>G | |
| NM_001374502.1:c.1027-70A>G | NP_001361431.1:n.1027-70A>G | |
| NM_001374503.1:c.1027-70A>G | NP_001361432.1:n.1027-70A>G | |
| NR_164653.1:n.1535-70A>G | ||
| NR_164654.1:n.1803-70A>G |