Linked Data
ClinVar Variation Id:
265591
dbSNP Id:
rs141957107
ExAC:
2:228552881 C / T
gnomAD v2:
2-228552881-C-T
gnomAD v4:
2-227688165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227688165C>T , CM000664.2:g.227688165C>T | GRCh38 |
| NC_000002.11:g.228552881C>T , CM000664.1:g.228552881C>T | GRCh37 |
| NC_000002.10:g.228261125C>T | NCBI36 |
| NG_016359.1:g.34865G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258403.8:c.1314+1G>A | ENSP00000258403.3:n.1314+1G>A | |
| ENST00000425817.6:c.*1339+1G>A | ENSP00000397393.2:n.*1339+1G>A | |
| ENST00000431622.6:c.*1339+1G>A | ENSP00000400627.1:n.*1339+1G>A | |
| ENST00000642268.1:n.1504+1G>A | ||
| ENST00000644224.2:c.1314+1G>A MANE Select | ENSP00000495385.1:n.1314+1G>A | |
| ENST00000645700.1:c.*425+1G>A | ENSP00000495372.1:n.*425+1G>A | |
| ENST00000645923.1:c.*508+1G>A | ENSP00000495010.1:n.*508+1G>A | |
| ENST00000646591.1:c.1350+1G>A | ENSP00000496701.1:n.1350+1G>A | |
| ENST00000647113.1:c.*302+1G>A | ENSP00000494966.1:n.*302+1G>A | |
| ENST00000676066.1:n.1044+1G>A | ||
| ENST00000258403.7:c.1314+1G>A | ENSP00000258403.3:n.1314+1G>A | |
| ENST00000409287.5:c.260-1996G>A | ENSP00000386298.1:n.260-1996G>A | |
| ENST00000425817.5:c.1314+1G>A | ENSP00000397393.1:n.1314+1G>A | |
| NM_025243.3:c.1314+1G>A | NP_079519.1:n.1314+1G>A | |
| XM_005246874.2:c.1302+1G>A | XP_005246931.1:n.1302+1G>A | |
| XM_006712779.2:c.1329+1G>A | XP_006712842.1:n.1329+1G>A | |
| XM_011511931.1:c.1350+1G>A | XP_011510233.1:n.1350+1G>A | |
| XM_011511932.1:c.1314+1G>A | XP_011510234.1:n.1314+1G>A | |
| XM_011511933.1:c.1314+1G>A | XP_011510235.1:n.1314+1G>A | |
| XM_005246874.3:c.1302+1G>A | XP_005246931.1:n.1302+1G>A | |
| XM_011511931.2:c.1350+1G>A | XP_011510233.1:n.1350+1G>A | |
| XM_017005030.1:c.1554+1G>A | XP_016860519.1:n.1554+1G>A | |
| XM_017005031.1:c.1533+1G>A | XP_016860520.1:n.1533+1G>A | |
| XM_017005032.1:c.1518+1G>A | XP_016860521.1:n.1518+1G>A | |
| XM_017005033.1:c.1518+1G>A | XP_016860522.1:n.1518+1G>A | |
| XM_017005034.2:c.1518+1G>A | XP_016860523.1:n.1518+1G>A | |
| NM_025243.4:c.1314+1G>A MANE Select | NP_079519.1:n.1314+1G>A | |
| NM_001371411.1:c.1314+1G>A | NP_001358340.1:n.1314+1G>A | |
| NM_001371412.1:c.1314+1G>A | NP_001358341.1:n.1314+1G>A | |
| NM_001371413.1:c.1302+1G>A | NP_001358342.1:n.1302+1G>A | |
| NM_001371414.1:c.1302+1G>A | NP_001358343.1:n.1302+1G>A |