Linked Data
ClinVar Variation Id:
1353847
ClinVar RCV Id:
RCV001873960
dbSNP Id:
rs1041659469
gnomAD v2:
10-79739952-G-A
gnomAD v4:
10-77980194-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77980194G>A , CM000672.2:g.77980194G>A | GRCh38 |
| NC_000010.10:g.79739952G>A , CM000672.1:g.79739952G>A | GRCh37 |
| NC_000010.9:g.79409958G>A | NCBI36 |
| NG_029648.1:g.54347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1888C>T | ||
| ENST00000698725.1:n.1641C>T | ||
| ENST00000698726.1:n.3201C>T | ||
| ENST00000698727.1:n.2934C>T | ||
| ENST00000698728.1:n.3550C>T | ||
| ENST00000698729.1:n.4998C>T | ||
| ENST00000698730.1:n.5096C>T | ||
| ENST00000698731.1:c.3830C>T | ENSP00000513898.1:p.Thr1277Met | |
| ENST00000698732.1:c.*2660C>T | ENSP00000513899.1:n.*2660C>T | |
| ENST00000698733.1:c.*3158C>T | ENSP00000513900.1:n.*3158C>T | |
| ENST00000698734.1:c.*2144C>T | ENSP00000513901.1:n.*2144C>T | |
| ENST00000698735.1:n.4322C>T | ||
| ENST00000698736.1:n.4735C>T | ||
| ENST00000698737.1:n.4086C>T | ||
| ENST00000372371.8:c.3971C>T MANE Select | ENSP00000361446.3:p.Thr1324Met | |
| ENST00000372371.7:c.3971C>T | ENSP00000361446.3:p.Thr1324Met | |
| ENST00000616246.4:c.419C>T | ENSP00000483738.1:p.Thr140Met | |
| NM_007055.3:c.3971C>T | NP_008986.2:p.Thr1324Met | |
| NM_007055.4:c.3971C>T MANE Select | NP_008986.2:p.Thr1324Met |