Linked Data
ClinVar Variation Id:
2816280
ClinVar RCV Id:
RCV003685803
dbSNP Id:
rs367653979
ExAC:
10:79741279 C / A
gnomAD v2:
10-79741279-C-A
gnomAD v4:
10-77981521-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77981521C>A , CM000672.2:g.77981521C>A | GRCh38 |
| NC_000010.10:g.79741279C>A , CM000672.1:g.79741279C>A | GRCh37 |
| NC_000010.9:g.79411285C>A | NCBI36 |
| NG_029648.1:g.53020G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1715G>T | ||
| ENST00000698725.1:n.314G>T | ||
| ENST00000698726.1:n.3028G>T | ||
| ENST00000698727.1:n.2761G>T | ||
| ENST00000698728.1:n.3377G>T | ||
| ENST00000698729.1:n.4825G>T | ||
| ENST00000698730.1:n.4923G>T | ||
| ENST00000698731.1:c.3657G>T | ENSP00000513898.1:p.Thr1219= | |
| ENST00000698732.1:c.*2487G>T | ENSP00000513899.1:n.*2487G>T | |
| ENST00000698733.1:c.*2985G>T | ENSP00000513900.1:n.*2985G>T | |
| ENST00000698734.1:c.*1971G>T | ENSP00000513901.1:n.*1971G>T | |
| ENST00000698735.1:n.4149G>T | ||
| ENST00000698736.1:n.4562G>T | ||
| ENST00000698737.1:n.3913G>T | ||
| ENST00000372371.8:c.3798G>T MANE Select | ENSP00000361446.3:p.Thr1266= | |
| ENST00000372371.7:c.3798G>T | ENSP00000361446.3:p.Thr1266= | |
| ENST00000616246.4:c.246G>T | ENSP00000483738.1:p.Thr82= | |
| NM_007055.3:c.3798G>T | NP_008986.2:p.Thr1266= | |
| NM_007055.4:c.3798G>T MANE Select | NP_008986.2:p.Thr1266= |