Linked Data
ClinVar Variation Id:
371042
ClinVar RCV Id:
RCV000412316
dbSNP Id:
rs1057516958
gnomAD v4:
5-119475871-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119475871G>T , CM000667.2:g.119475871G>T | GRCh38 |
| NC_000005.9:g.118811566G>T , CM000667.1:g.118811566G>T | GRCh37 |
| NC_000005.8:g.118839465G>T | NCBI36 |
| NG_008182.1:g.28419G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.349+1G>T | ENSP00000426272.2:n.349+1G>T | |
| ENST00000518349.6:c.112+19503G>T | ENSP00000507185.1:n.112+19503G>T | |
| ENST00000682445.1:c.*230+1G>T | ENSP00000508061.1:n.*230+1G>T | |
| ENST00000682531.1:n.450+1G>T | ||
| ENST00000682626.1:c.377+144G>T | ENSP00000507857.1:n.377+144G>T | |
| ENST00000682996.1:c.349+1G>T | ENSP00000507792.1:n.349+1G>T | |
| ENST00000683265.1:n.442+1G>T | ||
| ENST00000683371.1:c.*479+1G>T | ENSP00000508376.1:n.*479+1G>T | |
| ENST00000683390.1:n.494G>T | ||
| ENST00000683936.1:c.*234+1G>T | ENSP00000507721.1:n.*234+1G>T | |
| ENST00000683974.1:n.431+1G>T | ||
| ENST00000684160.1:c.424+1G>T | ENSP00000507821.1:n.424+1G>T | |
| ENST00000684214.1:c.349+1G>T | ENSP00000508071.1:n.349+1G>T | |
| ENST00000414835.7:c.424+1G>T | ENSP00000411960.3:n.424+1G>T | |
| ENST00000510025.7:c.349+1G>T MANE Select | ENSP00000424940.3:n.349+1G>T | |
| ENST00000643250.1:c.*230+1G>T | ENSP00000494737.1:n.*230+1G>T | |
| ENST00000644146.1:c.349+1G>T | ENSP00000494808.1:n.349+1G>T | |
| ENST00000645832.1:c.*234+1G>T | ENSP00000494316.1:n.*234+1G>T | |
| ENST00000646058.1:c.349+1G>T | ENSP00000493579.1:n.349+1G>T | |
| ENST00000646355.1:c.*355+1G>T | ENSP00000493801.1:n.*355+1G>T | |
| ENST00000646554.1:c.*230+1G>T | ENSP00000494542.1:n.*230+1G>T | |
| ENST00000646590.1:c.349+1G>T | ENSP00000494892.1:n.349+1G>T | |
| ENST00000647335.1:c.*316+1G>T | ENSP00000495180.1:n.*316+1G>T | |
| ENST00000647342.1:c.*230+1G>T | ENSP00000494992.1:n.*230+1G>T | |
| ENST00000256216.10:c.349+1G>T | ENSP00000256216.6:n.349+1G>T | |
| ENST00000414835.6:c.-63+1G>T | ENSP00000411960.2:n.-63+1G>T | |
| ENST00000442060.7:c.349+1G>T | ENSP00000390208.3:n.349+1G>T | |
| ENST00000503168.5:n.338+1G>T | ||
| ENST00000504811.5:c.424+1G>T | ENSP00000420914.1:n.424+1G>T | |
| ENST00000507695.1:n.322G>T | ||
| ENST00000510025.5:c.277+1G>T | ENSP00000424940.1:n.277+1G>T | |
| ENST00000511186.5:n.480+1G>T | ||
| ENST00000512841.5:n.397+1G>T | ||
| ENST00000515235.6:n.409+1G>T | ||
| ENST00000515320.5:c.295+1G>T | ENSP00000424613.1:n.295+1G>T | |
| NM_000414.3:c.349+1G>T | NP_000405.1:n.349+1G>T | |
| NM_001199291.2:c.424+1G>T | NP_001186220.1:n.424+1G>T | |
| NM_001199292.1:c.295+1G>T | NP_001186221.1:n.295+1G>T | |
| NM_001292027.1:c.277+1G>T | NP_001278956.1:n.277+1G>T | |
| NM_001292028.1:c.-63+1G>T | NP_001278957.1:n.-63+1G>T | |
| NM_000414.4:c.349+1G>T MANE Select | NP_000405.1:n.349+1G>T | |
| NM_001199291.3:c.424+1G>T | NP_001186220.1:n.424+1G>T | |
| NM_001199292.2:c.295+1G>T | NP_001186221.1:n.295+1G>T | |
| NM_001292027.2:c.277+1G>T | NP_001278956.1:n.277+1G>T | |
| NM_001292028.2:c.-63+1G>T | NP_001278957.1:n.-63+1G>T | |
| NM_001374497.1:c.349+1G>T | NP_001361426.1:n.349+1G>T | |
| NM_001374498.1:c.349+1G>T | NP_001361427.1:n.349+1G>T | |
| NM_001374499.1:c.22+144G>T | NP_001361428.1:n.22+144G>T | |
| NM_001374500.1:c.-190+1G>T | NP_001361429.1:n.-190+1G>T | |
| NM_001374501.1:c.-63+1G>T | NP_001361430.1:n.-63+1G>T | |
| NM_001374502.1:c.-63+1G>T | NP_001361431.1:n.-63+1G>T | |
| NM_001374503.1:c.-63+1G>T | NP_001361432.1:n.-63+1G>T | |
| NR_164653.1:n.428+1G>T | ||
| NR_164654.1:n.616+1G>T |