Linked Data
ClinVar Variation Id:
384850
dbSNP Id:
rs906116599
gnomAD v2:
7-106897170-C-T
gnomAD v3:
7-107256725-C-T
gnomAD v4:
7-107256725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107256725C>T , CM000669.2:g.107256725C>T | GRCh38 |
| NC_000007.13:g.106897170C>T , CM000669.1:g.106897170C>T | GRCh37 |
| NC_000007.12:g.106684406C>T | NCBI36 |
| NG_028095.1:g.312790G>A | |
| NG_028095.2:g.312790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297135.9:c.1749+7G>A MANE Select | ENSP00000297135.4:n.1749+7G>A | |
| ENST00000347053.8:c.1686+1548G>A | ENSP00000334703.3:n.1686+1548G>A | |
| ENST00000393603.7:c.1749+7G>A | ENSP00000377228.3:n.1749+7G>A | |
| ENST00000297135.7:c.1842+7G>A | ENSP00000297135.3:n.1842+7G>A | |
| ENST00000347053.7:c.1779+1548G>A | ENSP00000334703.2:n.1779+1548G>A | |
| ENST00000393603.6:c.1842+7G>A | ENSP00000377228.2:n.1842+7G>A | |
| ENST00000462342.1:n.411+7G>A | ||
| ENST00000468350.5:n.315+7G>A | ||
| NM_001161520.1:c.1842+7G>A | NP_001154992.1:n.1842+7G>A | |
| NM_006348.3:c.1842+7G>A | NP_006339.3:n.1842+7G>A | |
| NM_181733.2:c.1779+1548G>A | NP_859422.2:n.1779+1548G>A | |
| NM_001161520.2:c.1749+7G>A | NP_001154992.2:n.1749+7G>A | |
| NM_006348.4:c.1749+7G>A | NP_006339.4:n.1749+7G>A | |
| NM_181733.3:c.1686+1548G>A | NP_859422.3:n.1686+1548G>A | |
| NM_001379511.1:c.1587+7G>A | NP_001366440.1:n.1587+7G>A | |
| NM_001379512.1:c.1576-8226G>A | NP_001366441.1:n.1576-8226G>A | |
| NM_001379513.1:c.1749+7G>A | NP_001366442.1:n.1749+7G>A | |
| NM_001379514.1:c.1749+7G>A | NP_001366443.1:n.1749+7G>A | |
| NM_001379515.1:c.1179+7G>A | NP_001366444.1:n.1179+7G>A | |
| NM_001379516.1:c.1035+7G>A | NP_001366445.1:n.1035+7G>A | |
| NM_006348.5:c.1749+7G>A MANE Select | NP_006339.4:n.1749+7G>A | |
| NM_181733.4:c.1686+1548G>A | NP_859422.3:n.1686+1548G>A |