Linked Data
ClinVar Variation Id:
370152
ClinVar RCV Id:
RCV000410725
dbSNP Id:
rs1057516273
gnomAD v2:
5-118850674-A-C
gnomAD v4:
5-119514979-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119514979A>C , CM000667.2:g.119514979A>C | GRCh38 |
| NC_000005.9:g.118850674A>C , CM000667.1:g.118850674A>C | GRCh37 |
| NC_000005.8:g.118878573A>C | NCBI36 |
| NG_008182.1:g.67527A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.1369-2A>C | ENSP00000426272.2:n.1369-2A>C | |
| ENST00000518349.6:c.682-2A>C | ENSP00000507185.1:n.682-2A>C | |
| ENST00000520244.6:n.3174A>C | ||
| ENST00000682445.1:c.*1319-2A>C | ENSP00000508061.1:n.*1319-2A>C | |
| ENST00000682531.1:n.3330-2A>C | ||
| ENST00000682626.1:c.*944-2A>C | ENSP00000507857.1:n.*944-2A>C | |
| ENST00000682996.1:c.1366-2A>C | ENSP00000507792.1:n.1366-2A>C | |
| ENST00000683265.1:n.3224-2A>C | ||
| ENST00000683335.1:n.2838A>C | ||
| ENST00000683371.1:c.*1568-2A>C | ENSP00000508376.1:n.*1568-2A>C | |
| ENST00000683372.1:n.3448-2A>C | ||
| ENST00000683390.1:n.3128-2A>C | ||
| ENST00000683549.1:n.3052-2A>C | ||
| ENST00000683936.1:c.*3016-2A>C | ENSP00000507721.1:n.*3016-2A>C | |
| ENST00000683974.1:n.3213-48A>C | ||
| ENST00000683996.1:c.*648-2A>C | ENSP00000507060.1:n.*648-2A>C | |
| ENST00000684131.1:n.2970-2A>C | ||
| ENST00000684160.1:c.*1128-2A>C | ENSP00000507821.1:n.*1128-2A>C | |
| ENST00000684214.1:c.1438-2A>C | ENSP00000508071.1:n.1438-2A>C | |
| ENST00000414835.7:c.1513-2A>C | ENSP00000411960.3:n.1513-2A>C | |
| ENST00000510025.7:c.1438-2A>C MANE Select | ENSP00000424940.3:n.1438-2A>C | |
| ENST00000643250.1:c.*1310-2A>C | ENSP00000494737.1:n.*1310-2A>C | |
| ENST00000644146.1:c.*2709-2A>C | ENSP00000494808.1:n.*2709-2A>C | |
| ENST00000645099.1:c.997-2A>C | ENSP00000496091.1:n.997-2A>C | |
| ENST00000645702.1:c.*841-2A>C | ENSP00000496432.1:n.*841-2A>C | |
| ENST00000645832.1:c.*1323-2A>C | ENSP00000494316.1:n.*1323-2A>C | |
| ENST00000646058.1:c.1438-2A>C | ENSP00000493579.1:n.1438-2A>C | |
| ENST00000646355.1:c.*1444-2A>C | ENSP00000493801.1:n.*1444-2A>C | |
| ENST00000646554.1:c.*1416-2A>C | ENSP00000494542.1:n.*1416-2A>C | |
| ENST00000647335.1:c.*1405-2A>C | ENSP00000495180.1:n.*1405-2A>C | |
| ENST00000647342.1:c.*1369-2A>C | ENSP00000494992.1:n.*1369-2A>C | |
| ENST00000256216.10:c.1438-2A>C | ENSP00000256216.6:n.1438-2A>C | |
| ENST00000414835.6:c.1018-2A>C | ENSP00000411960.2:n.1018-2A>C | |
| ENST00000442060.7:c.1503-2A>C | ENSP00000390208.3:n.1503-2A>C | |
| ENST00000504811.5:c.1513-2A>C | ENSP00000420914.1:n.1513-2A>C | |
| ENST00000509514.5:c.652-2A>C | ENSP00000426272.1:n.652-2A>C | |
| ENST00000510025.5:c.1366-2A>C | ENSP00000424940.1:n.1366-2A>C | |
| ENST00000513628.5:c.1027-2A>C | ENSP00000425993.1:n.1027-2A>C | |
| ENST00000515235.6:n.3191-2A>C | ||
| ENST00000515320.5:c.1384-2A>C | ENSP00000424613.1:n.1384-2A>C | |
| ENST00000518349.5:n.572-2A>C | ||
| ENST00000520244.5:n.221-2A>C | ||
| ENST00000522415.5:n.105-2A>C | ||
| NM_000414.3:c.1438-2A>C | NP_000405.1:n.1438-2A>C | |
| NM_001199291.2:c.1513-2A>C | NP_001186220.1:n.1513-2A>C | |
| NM_001199292.1:c.1384-2A>C | NP_001186221.1:n.1384-2A>C | |
| NM_001292027.1:c.1366-2A>C | NP_001278956.1:n.1366-2A>C | |
| NM_001292028.1:c.1018-2A>C | NP_001278957.1:n.1018-2A>C | |
| NM_000414.4:c.1438-2A>C MANE Select | NP_000405.1:n.1438-2A>C | |
| NM_001199291.3:c.1513-2A>C | NP_001186220.1:n.1513-2A>C | |
| NM_001199292.2:c.1384-2A>C | NP_001186221.1:n.1384-2A>C | |
| NM_001292027.2:c.1366-2A>C | NP_001278956.1:n.1366-2A>C | |
| NM_001292028.2:c.1018-2A>C | NP_001278957.1:n.1018-2A>C | |
| NM_001374497.1:c.1429-2A>C | NP_001361426.1:n.1429-2A>C | |
| NM_001374498.1:c.1366-2A>C | NP_001361427.1:n.1366-2A>C | |
| NM_001374499.1:c.1111-2A>C | NP_001361428.1:n.1111-2A>C | |
| NM_001374500.1:c.997-2A>C | NP_001361429.1:n.997-2A>C | |
| NM_001374501.1:c.1027-2A>C | NP_001361430.1:n.1027-2A>C | |
| NM_001374502.1:c.1027-2A>C | NP_001361431.1:n.1027-2A>C | |
| NM_001374503.1:c.1027-2A>C | NP_001361432.1:n.1027-2A>C | |
| NR_164653.1:n.1535-2A>C | ||
| NR_164654.1:n.1803-2A>C |