Linked Data
ClinVar Variation Id:
310137
dbSNP Id:
rs3764873
ExAC:
12:6458342 C / A
gnomAD v2:
12-6458342-C-A
gnomAD v3:
12-6349176-C-A
gnomAD v4:
12-6349176-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6349176C>A , CM000674.2:g.6349176C>A | GRCh38 |
| NC_000012.11:g.6458342C>A , CM000674.1:g.6458342C>A | GRCh37 |
| NC_000012.10:g.6328603C>A | NCBI36 |
| NG_011945.1:g.33182G>T | |
| NG_011945.2:g.33182G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1485G>T MANE Select | ENSP00000228916.2:p.Ser495= | |
| ENST00000228916.6:c.1485G>T | ENSP00000228916.2:p.Ser495= | |
| ENST00000338748.9:c.*556G>T | ENSP00000345028.5:n.*556G>T | |
| ENST00000360168.7:c.1662G>T | ENSP00000353292.3:p.Ser554= | |
| ENST00000396966.6:c.1439+151G>T | ENSP00000380166.2:n.1439+151G>T | |
| ENST00000457871.2:n.432G>T | ||
| ENST00000540037.5:c.585G>T | ENSP00000440876.1:p.Ser195= | |
| ENST00000543768.1:c.1554G>T | ENSP00000438739.1:p.Ser518= | |
| NM_001038.5:c.1485G>T | NP_001029.1:p.Ser495= | |
| NM_001159575.1:c.1554G>T | NP_001153047.1:p.Ser518= | |
| NM_001159576.1:c.1662G>T | NP_001153048.1:p.Ser554= | |
| XR_001748982.1:n.87+909C>A | ||
| XR_001748983.1:n.87+909C>A | ||
| XR_001748984.1:n.87+909C>A | ||
| NM_001038.6:c.1485G>T MANE Select | NP_001029.1:p.Ser495= | |
| NM_001159576.2:c.1662G>T | NP_001153048.1:p.Ser554= | |
| NM_001159575.2:c.1554G>T | NP_001153047.1:p.Ser518= |