Linked Data
ClinVar Variation Id:
285948
dbSNP Id:
rs760915898
ExAC:
12:88479815 C / T
gnomAD v2:
12-88479815-C-T
gnomAD v3:
12-88086038-C-T
gnomAD v4:
12-88086038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88086038C>T , CM000674.2:g.88086038C>T | GRCh38 |
| NC_000012.11:g.88479815C>T , CM000674.1:g.88479815C>T | GRCh37 |
| NC_000012.10:g.87003946C>T | NCBI36 |
| NG_008417.1:g.61179G>A | |
| NG_008417.2:g.61179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.4437+1G>A | ENSP00000308021.8:n.4437+1G>A | |
| ENST00000547691.8:c.1721+1G>A | ||
| ENST00000552810.6:c.4437+1G>A MANE Select | ENSP00000448012.1:n.4437+1G>A | |
| ENST00000672414.2:c.*2608+1G>A | ENSP00000500729.1:n.*2608+1G>A | |
| ENST00000672647.1:n.2797+1G>A | ||
| ENST00000673058.2:c.4437+1G>A | ENSP00000500665.2:n.4437+1G>A | |
| ENST00000674971.1:c.4437+1G>A | ENSP00000502194.1:n.4437+1G>A | |
| ENST00000675230.1:c.4416+1G>A | ENSP00000502503.1:n.4416+1G>A | |
| ENST00000675408.1:c.4437+1G>A | ENSP00000502298.1:n.4437+1G>A | |
| ENST00000675476.1:c.5298+1G>A | ENSP00000502161.1:n.5298+1G>A | |
| ENST00000675628.1:n.4664+1G>A | ||
| ENST00000675794.1:c.*2608+1G>A | ENSP00000502841.1:n.*2608+1G>A | |
| ENST00000675833.1:c.5205+1G>A | ENSP00000502559.1:n.5205+1G>A | |
| ENST00000675894.1:n.742+1G>A | ||
| ENST00000676074.1:c.4437+1G>A | ENSP00000502079.1:n.4437+1G>A | |
| ENST00000676181.1:n.3365+1G>A | ||
| ENST00000676363.1:n.10163+1G>A | ||
| ENST00000676448.1:c.*2350+1G>A | ENSP00000501987.1:n.*2350+1G>A | |
| ENST00000309041.11:c.4443+1G>A | ENSP00000308021.7:n.4443+1G>A | |
| ENST00000547691.6:c.1617+1G>A | ENSP00000446905.1:n.1617+1G>A | |
| ENST00000552810.5:c.4437+1G>A | ENSP00000448012.1:n.4437+1G>A | |
| NM_025114.3:c.4437+1G>A | NP_079390.3:n.4437+1G>A | |
| XM_011538756.1:c.5298+1G>A | XP_011537058.1:n.5298+1G>A | |
| XM_011538757.1:c.5298+1G>A | XP_011537059.1:n.5298+1G>A | |
| XM_011538758.1:c.5298+1G>A | XP_011537060.1:n.5298+1G>A | |
| XM_011538759.1:c.5298+1G>A | XP_011537061.1:n.5298+1G>A | |
| XM_011538760.1:c.5298+1G>A | XP_011537062.1:n.5298+1G>A | |
| XM_011538761.1:c.5298+1G>A | XP_011537063.1:n.5298+1G>A | |
| XM_011538762.1:c.4530+1G>A | XP_011537064.1:n.4530+1G>A | |
| XM_011538763.1:c.4437+1G>A | XP_011537065.1:n.4437+1G>A | |
| XM_011538764.1:c.5298+1G>A | XP_011537066.1:n.5298+1G>A | |
| XM_011538765.1:c.5298+1G>A | XP_011537067.1:n.5298+1G>A | |
| XM_011538766.1:c.3759+1G>A | XP_011537068.1:n.3759+1G>A | |
| XM_011538756.3:c.5298+1G>A | XP_011537058.1:n.5298+1G>A | |
| XM_011538757.3:c.5298+1G>A | XP_011537059.1:n.5298+1G>A | |
| XM_011538758.3:c.5298+1G>A | XP_011537060.1:n.5298+1G>A | |
| XM_011538759.2:c.5298+1G>A | XP_011537061.1:n.5298+1G>A | |
| XM_011538760.2:c.5298+1G>A | XP_011537062.1:n.5298+1G>A | |
| XM_011538761.2:c.5298+1G>A | XP_011537063.1:n.5298+1G>A | |
| XM_011538762.3:c.4530+1G>A | XP_011537064.1:n.4530+1G>A | |
| XM_011538763.3:c.4437+1G>A | XP_011537065.1:n.4437+1G>A | |
| XM_011538764.3:c.5298+1G>A | XP_011537066.1:n.5298+1G>A | |
| XM_011538765.3:c.5298+1G>A | XP_011537067.1:n.5298+1G>A | |
| XM_011538766.3:c.3759+1G>A | XP_011537068.1:n.3759+1G>A | |
| XM_017019980.2:c.5298+1G>A | XP_016875469.1:n.5298+1G>A | |
| XM_017019981.2:c.5298+1G>A | XP_016875470.1:n.5298+1G>A | |
| XM_017019982.1:c.5298+1G>A | XP_016875471.1:n.5298+1G>A | |
| XM_017019983.2:c.4416+1G>A | XP_016875472.1:n.4416+1G>A | |
| XR_001748869.1:n.5642+1G>A | ||
| XR_001748870.2:n.5642+1G>A | ||
| NM_025114.4:c.4437+1G>A MANE Select | NP_079390.3:n.4437+1G>A |