Linked Data
ClinVar Variation Id:
1518292
ClinVar RCV Id:
RCV002043438
dbSNP Id:
rs1218624488
gnomAD v3:
10-77977607-G-C
gnomAD v4:
10-77977607-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77977607G>C , CM000672.2:g.77977607G>C | GRCh38 |
| NC_000010.10:g.79737365G>C , CM000672.1:g.79737365G>C | GRCh37 |
| NC_000010.9:g.79407371G>C | NCBI36 |
| NG_029648.1:g.56934C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1941+2534C>G | ||
| ENST00000698725.1:n.1714C>G | ||
| ENST00000698726.1:n.3274C>G | ||
| ENST00000698727.1:n.3007C>G | ||
| ENST00000698728.1:n.3623C>G | ||
| ENST00000698729.1:n.5071C>G | ||
| ENST00000698730.1:n.5169C>G | ||
| ENST00000698731.1:c.3903C>G | ENSP00000513898.1:p.Ile1301Met | |
| ENST00000698732.1:c.*2733C>G | ENSP00000513899.1:n.*2733C>G | |
| ENST00000698733.1:c.*3231C>G | ENSP00000513900.1:n.*3231C>G | |
| ENST00000698734.1:c.*2217C>G | ENSP00000513901.1:n.*2217C>G | |
| ENST00000698735.1:n.4395C>G | ||
| ENST00000698736.1:n.4808C>G | ||
| ENST00000372371.8:c.4044C>G MANE Select | ENSP00000361446.3:p.Ile1348Met | |
| ENST00000372371.7:c.4044C>G | ENSP00000361446.3:p.Ile1348Met | |
| ENST00000616246.4:c.472+2534C>G | ENSP00000483738.1:n.472+2534C>G | |
| NM_007055.3:c.4044C>G | NP_008986.2:p.Ile1348Met | |
| NM_007055.4:c.4044C>G MANE Select | NP_008986.2:p.Ile1348Met |