Linked Data
dbSNP Id:
rs11705932
gnomAD v2:
3-141818850-C-T
gnomAD v3:
3-142100008-C-T
gnomAD v4:
3-142100008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142100008C>T , CM000665.2:g.142100008C>T | GRCh38 |
| NC_000003.11:g.141818850C>T , CM000665.1:g.141818850C>T | GRCh37 |
| NC_000003.10:g.143301540C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000489671.6:c.15+1727G>A MANE Select | ENSP00000420616.1:n.15+1727G>A | |
| ENST00000464782.5:n.356-45859G>A | ||
| ENST00000467072.5:c.-204+1727G>A | ENSP00000418590.1:n.-204+1727G>A | |
| ENST00000467634.1:c.15+1727G>A | ENSP00000419540.1:n.15+1727G>A | |
| ENST00000475734.5:c.-102+49175G>A | ENSP00000417108.1:n.-102+49175G>A | |
| ENST00000476617.5:n.395+1727G>A | ||
| ENST00000487734.5:c.15+1727G>A | ENSP00000417384.1:n.15+1727G>A | |
| ENST00000489671.5:c.15+1727G>A | ENSP00000420616.1:n.15+1727G>A | |
| ENST00000491667.1:n.469+1727G>A | ||
| ENST00000494358.5:c.-102+1727G>A | ENSP00000420657.1:n.-102+1727G>A | |
| ENST00000495095.6:n.462+1727G>A | ||
| NM_001178138.1:c.-204+1727G>A | NP_001171609.1:n.-204+1727G>A | |
| NM_001178139.1:c.15+1727G>A | NP_001171610.1:n.15+1727G>A | |
| XM_005247731.1:c.15+1727G>A | XP_005247788.1:n.15+1727G>A | |
| XM_011513101.1:c.-155+1727G>A | XP_011511403.1:n.-155+1727G>A | |
| XM_011513106.1:c.-155+1727G>A | XP_011511408.1:n.-155+1727G>A | |
| XM_011513107.1:c.15+1727G>A | XP_011511409.1:n.15+1727G>A | |
| XM_011513108.1:c.-155+1727G>A | XP_011511410.1:n.-155+1727G>A | |
| XM_005247731.3:c.15+1727G>A | XP_005247788.1:n.15+1727G>A | |
| XM_011513101.3:c.-155+1727G>A | XP_011511403.1:n.-155+1727G>A | |
| XM_011513106.3:c.-155+1727G>A | XP_011511408.1:n.-155+1727G>A | |
| XM_011513107.2:c.15+1727G>A | XP_011511409.1:n.15+1727G>A | |
| XM_011513108.3:c.-155+1727G>A | XP_011511410.1:n.-155+1727G>A | |
| XM_017007091.1:c.15+1727G>A | XP_016862580.1:n.15+1727G>A | |
| XM_017007097.2:c.-204+1727G>A | XP_016862586.1:n.-204+1727G>A | |
| XM_017007098.2:c.-393+1727G>A | XP_016862587.1:n.-393+1727G>A | |
| XM_017007100.2:c.15+1727G>A | XP_016862589.1:n.15+1727G>A | |
| XM_017007102.2:c.-155+1727G>A | XP_016862591.1:n.-155+1727G>A | |
| XM_017007104.2:c.-155+1727G>A | XP_016862593.1:n.-155+1727G>A | |
| XM_024453726.1:c.-190+1727G>A | XP_024309494.1:n.-190+1727G>A | |
| XM_024453728.1:c.-190+1727G>A | XP_024309496.1:n.-190+1727G>A | |
| XM_024453730.1:c.-190+1727G>A | XP_024309498.1:n.-190+1727G>A | |
| NM_001178138.2:c.-204+1727G>A | NP_001171609.1:n.-204+1727G>A | |
| NM_001178139.2:c.15+1727G>A MANE Select | NP_001171610.1:n.15+1727G>A | |
| NM_001375773.1:c.15+1727G>A | NP_001362702.1:n.15+1727G>A | |
| NM_001375775.1:c.-155+1727G>A | NP_001362704.1:n.-155+1727G>A | |
| NM_001375776.1:c.-393+1727G>A | NP_001362705.1:n.-393+1727G>A | |
| NM_001375778.1:c.-204+1727G>A | NP_001362707.1:n.-204+1727G>A | |
| NM_001375780.1:c.-155+1727G>A | NP_001362709.1:n.-155+1727G>A |