Linked Data
ClinVar Variation Id:
308924
dbSNP Id:
rs754310324
ExAC:
12:48379503 C / A
gnomAD v2:
12-48379503-C-A
gnomAD v3:
12-47985720-C-A
gnomAD v4:
12-47985720-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47985720C>A , CM000674.2:g.47985720C>A | GRCh38 |
| NC_000012.11:g.48379503C>A , CM000674.1:g.48379503C>A | GRCh37 |
| NC_000012.10:g.46665770C>A | NCBI36 |
| NG_008072.1:g.23783G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.1473+8G>T | ENSP00000338213.6:n.1473+8G>T | |
| ENST00000380518.8:c.1680+8G>T MANE Select | ENSP00000369889.3:n.1680+8G>T | |
| ENST00000337299.6:c.1473+8G>T | ENSP00000338213.6:n.1473+8G>T | |
| ENST00000380518.7:c.1680+8G>T | ENSP00000369889.3:n.1680+8G>T | |
| ENST00000493991.5:n.604+8G>T | ||
| NM_001844.4:c.1680+8G>T | NP_001835.3:n.1680+8G>T | |
| NM_033150.2:c.1473+8G>T | NP_149162.2:n.1473+8G>T | |
| XM_006719242.2:c.1824+8G>T | XP_006719305.2:n.1824+8G>T | |
| XM_011537928.1:c.1824+8G>T | XP_011536230.1:n.1824+8G>T | |
| XM_011537929.1:c.1824+8G>T | XP_011536231.1:n.1824+8G>T | |
| XM_011537930.1:c.1824+8G>T | XP_011536232.1:n.1824+8G>T | |
| XM_011537931.1:c.1824+8G>T | XP_011536233.1:n.1824+8G>T | |
| XM_011537932.1:c.1824+8G>T | XP_011536234.1:n.1824+8G>T | |
| XM_011537933.1:c.1824+8G>T | XP_011536235.1:n.1824+8G>T | |
| XM_011537934.1:c.1821+8G>T | XP_011536236.1:n.1821+8G>T | |
| XM_011537935.1:c.768+8G>T | XP_011536237.1:n.768+8G>T | |
| XM_017018828.1:c.1824+8G>T | XP_016874317.1:n.1824+8G>T | |
| XM_017018829.1:c.1821+8G>T | XP_016874318.1:n.1821+8G>T | |
| XM_017018830.1:c.1614+8G>T | XP_016874319.1:n.1614+8G>T | |
| XM_017018831.2:c.1134+8G>T | XP_016874320.1:n.1134+8G>T | |
| NM_001844.5:c.1680+8G>T MANE Select | NP_001835.3:n.1680+8G>T | |
| NM_033150.3:c.1473+8G>T | NP_149162.2:n.1473+8G>T |