Linked Data
ClinVar Variation Id:
391224
dbSNP Id:
rs75011402
ExAC:
12:88449343 C / T
gnomAD v2:
12-88449343-C-T
gnomAD v3:
12-88055566-C-T
gnomAD v4:
12-88055566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88055566C>T , CM000674.2:g.88055566C>T | GRCh38 |
| NC_000012.11:g.88449343C>T , CM000674.1:g.88449343C>T | GRCh37 |
| NC_000012.10:g.86973474C>T | NCBI36 |
| NG_008417.1:g.91651G>A | |
| NG_008417.2:g.91651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6969+10G>A | ENSP00000308021.8:n.6969+10G>A | |
| ENST00000547691.8:c.3930-1153G>A | ||
| ENST00000552810.6:c.6960+10G>A MANE Select | ENSP00000448012.1:n.6960+10G>A | |
| ENST00000671777.2:n.739+10G>A | ||
| ENST00000672414.2:c.*4966+10G>A | ENSP00000500729.1:n.*4966+10G>A | |
| ENST00000672647.1:n.5320+10G>A | ||
| ENST00000673058.2:c.6837+10G>A | ENSP00000500665.2:n.6837+10G>A | |
| ENST00000674712.1:n.487+10G>A | ||
| ENST00000674889.1:n.3913+10G>A | ||
| ENST00000674971.1:c.6960+10G>A | ENSP00000502194.1:n.6960+10G>A | |
| ENST00000675230.1:c.6939+10G>A | ENSP00000502503.1:n.6939+10G>A | |
| ENST00000675408.1:c.6795+10G>A | ENSP00000502298.1:n.6795+10G>A | |
| ENST00000675476.1:c.7821+10G>A | ENSP00000502161.1:n.7821+10G>A | |
| ENST00000675628.1:n.7197G>A | ||
| ENST00000675794.1:c.*5131+10G>A | ENSP00000502841.1:n.*5131+10G>A | |
| ENST00000675833.1:c.7728+10G>A | ENSP00000502559.1:n.7728+10G>A | |
| ENST00000675894.1:n.3265+10G>A | ||
| ENST00000676074.1:c.6795+10G>A | ENSP00000502079.1:n.6795+10G>A | |
| ENST00000676181.1:n.5898G>A | ||
| ENST00000676190.1:n.1409G>A | ||
| ENST00000676363.1:n.12686+10G>A | ||
| ENST00000309041.11:c.6966+10G>A | ENSP00000308021.7:n.6966+10G>A | |
| ENST00000547691.6:c.4140+10G>A | ENSP00000446905.1:n.4140+10G>A | |
| ENST00000552810.5:c.6960+10G>A | ENSP00000448012.1:n.6960+10G>A | |
| NM_025114.3:c.6960+10G>A | NP_079390.3:n.6960+10G>A | |
| XM_011538756.1:c.7830+10G>A | XP_011537058.1:n.7830+10G>A | |
| XM_011538757.1:c.7830+10G>A | XP_011537059.1:n.7830+10G>A | |
| XM_011538758.1:c.7827+10G>A | XP_011537060.1:n.7827+10G>A | |
| XM_011538759.1:c.7821+10G>A | XP_011537061.1:n.7821+10G>A | |
| XM_011538760.1:c.7707+10G>A | XP_011537062.1:n.7707+10G>A | |
| XM_011538761.1:c.7665+10G>A | XP_011537063.1:n.7665+10G>A | |
| XM_011538762.1:c.7062+10G>A | XP_011537064.1:n.7062+10G>A | |
| XM_011538763.1:c.6969+10G>A | XP_011537065.1:n.6969+10G>A | |
| XM_011538766.1:c.6291+10G>A | XP_011537068.1:n.6291+10G>A | |
| XR_945163.1:n.853+294C>T | ||
| XM_011538756.3:c.7830+10G>A | XP_011537058.1:n.7830+10G>A | |
| XM_011538757.3:c.7830+10G>A | XP_011537059.1:n.7830+10G>A | |
| XM_011538758.3:c.7827+10G>A | XP_011537060.1:n.7827+10G>A | |
| XM_011538759.2:c.7821+10G>A | XP_011537061.1:n.7821+10G>A | |
| XM_011538760.2:c.7707+10G>A | XP_011537062.1:n.7707+10G>A | |
| XM_011538761.2:c.7665+10G>A | XP_011537063.1:n.7665+10G>A | |
| XM_011538762.3:c.7062+10G>A | XP_011537064.1:n.7062+10G>A | |
| XM_011538763.3:c.6969+10G>A | XP_011537065.1:n.6969+10G>A | |
| XM_011538766.3:c.6291+10G>A | XP_011537068.1:n.6291+10G>A | |
| XM_017019980.2:c.7698+10G>A | XP_016875469.1:n.7698+10G>A | |
| XM_017019981.2:c.7656+10G>A | XP_016875470.1:n.7656+10G>A | |
| XM_017019982.1:c.7830+10G>A | XP_016875471.1:n.7830+10G>A | |
| XM_017019983.2:c.6948+10G>A | XP_016875472.1:n.6948+10G>A | |
| XR_001748869.1:n.8165+10G>A | ||
| XR_001748870.2:n.8000+10G>A | ||
| NM_025114.4:c.6960+10G>A MANE Select | NP_079390.3:n.6960+10G>A |