Linked Data
ClinVar Variation Id:
674836
ClinVar RCV Id:
RCV000834163
dbSNP Id:
rs7963636
gnomAD v2:
12-48379856-T-C
gnomAD v3:
12-47986073-T-C
gnomAD v4:
12-47986073-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47986073T>C , CM000674.2:g.47986073T>C | GRCh38 |
| NC_000012.11:g.48379856T>C , CM000674.1:g.48379856T>C | GRCh37 |
| NC_000012.10:g.46666123T>C | NCBI36 |
| NG_008072.1:g.23430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.1321-108A>G | ENSP00000338213.6:n.1321-108A>G | |
| ENST00000380518.8:c.1528-108A>G MANE Select | ENSP00000369889.3:n.1528-108A>G | |
| ENST00000337299.6:c.1321-108A>G | ENSP00000338213.6:n.1321-108A>G | |
| ENST00000380518.7:c.1528-108A>G | ENSP00000369889.3:n.1528-108A>G | |
| ENST00000493991.5:n.452-108A>G | ||
| NM_001844.4:c.1528-108A>G | NP_001835.3:n.1528-108A>G | |
| NM_033150.2:c.1321-108A>G | NP_149162.2:n.1321-108A>G | |
| XM_006719242.2:c.1672-108A>G | XP_006719305.2:n.1672-108A>G | |
| XM_011537928.1:c.1672-108A>G | XP_011536230.1:n.1672-108A>G | |
| XM_011537929.1:c.1672-108A>G | XP_011536231.1:n.1672-108A>G | |
| XM_011537930.1:c.1672-108A>G | XP_011536232.1:n.1672-108A>G | |
| XM_011537931.1:c.1672-108A>G | XP_011536233.1:n.1672-108A>G | |
| XM_011537932.1:c.1672-108A>G | XP_011536234.1:n.1672-108A>G | |
| XM_011537933.1:c.1672-108A>G | XP_011536235.1:n.1672-108A>G | |
| XM_011537934.1:c.1669-108A>G | XP_011536236.1:n.1669-108A>G | |
| XM_011537935.1:c.616-108A>G | XP_011536237.1:n.616-108A>G | |
| XM_017018828.1:c.1672-108A>G | XP_016874317.1:n.1672-108A>G | |
| XM_017018829.1:c.1669-108A>G | XP_016874318.1:n.1669-108A>G | |
| XM_017018830.1:c.1462-108A>G | XP_016874319.1:n.1462-108A>G | |
| XM_017018831.2:c.982-108A>G | XP_016874320.1:n.982-108A>G | |
| NM_001844.5:c.1528-108A>G MANE Select | NP_001835.3:n.1528-108A>G | |
| NM_033150.3:c.1321-108A>G | NP_149162.2:n.1321-108A>G |