Linked Data
ClinVar Variation Id:
310148
dbSNP Id:
rs759933475
ExAC:
12:6471266 C / A
gnomAD v2:
12-6471266-C-A
gnomAD v3:
12-6362100-C-A
gnomAD v4:
12-6362100-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6362100C>A , CM000674.2:g.6362100C>A | GRCh38 |
| NC_000012.11:g.6471266C>A , CM000674.1:g.6471266C>A | GRCh37 |
| NC_000012.10:g.6341527C>A | NCBI36 |
| NG_011945.1:g.20258G>T | |
| NG_011945.2:g.20258G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.826G>T MANE Select | ENSP00000228916.2:p.Gly276Cys | |
| ENST00000228916.6:c.826G>T | ENSP00000228916.2:p.Gly276Cys | |
| ENST00000338748.9:c.684+1343G>T | ENSP00000345028.5:n.684+1343G>T | |
| ENST00000360168.7:c.1003G>T | ENSP00000353292.3:p.Gly335Cys | |
| ENST00000396966.6:c.826G>T | ENSP00000380166.2:p.Gly276Cys | |
| ENST00000538979.5:n.83-5706G>T | ||
| ENST00000540037.5:c.-58G>T | ENSP00000440876.1:n.-58G>T | |
| ENST00000541249.5:n.73G>T | ||
| ENST00000542966.1:n.325G>T | ||
| ENST00000543768.1:c.895G>T | ENSP00000438739.1:p.Gly299Cys | |
| NM_001038.5:c.826G>T | NP_001029.1:p.Gly276Cys | |
| NM_001159575.1:c.895G>T | NP_001153047.1:p.Gly299Cys | |
| NM_001159576.1:c.1003G>T | NP_001153048.1:p.Gly335Cys | |
| NM_001038.6:c.826G>T MANE Select | NP_001029.1:p.Gly276Cys | |
| NM_001159576.2:c.1003G>T | NP_001153048.1:p.Gly335Cys | |
| NM_001159575.2:c.895G>T | NP_001153047.1:p.Gly299Cys |