Linked Data
ClinVar Variation Id:
2092550
ClinVar RCV Id:
RCV002996596
gnomAD v4:
10-78000116-G-C
MyVariant Identifiers:
chr10:g.79759874G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000116G>C , CM000672.2:g.78000116G>C | GRCh38 |
| NC_000010.10:g.79759874G>C , CM000672.1:g.79759874G>C | GRCh37 |
| NC_000010.9:g.79429880G>C | NCBI36 |
| NG_029648.1:g.34425C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1541C>G | ||
| ENST00000698728.1:n.2060C>G | ||
| ENST00000698729.1:n.3606C>G | ||
| ENST00000698730.1:n.3606C>G | ||
| ENST00000698731.1:c.2340C>G | ENSP00000513898.1:p.Leu780= | |
| ENST00000698732.1:c.*1342C>G | ENSP00000513899.1:n.*1342C>G | |
| ENST00000698733.1:c.*1668C>G | ENSP00000513900.1:n.*1668C>G | |
| ENST00000698734.1:c.2481C>G | ENSP00000513901.1:p.Leu827= | |
| ENST00000698735.1:n.2596C>G | ||
| ENST00000698736.1:n.2596C>G | ||
| ENST00000698737.1:n.2596C>G | ||
| ENST00000698738.1:n.2596C>G | ||
| ENST00000698739.1:n.2596C>G | ||
| ENST00000372371.8:c.2481C>G MANE Select | ENSP00000361446.3:p.Leu827= | |
| ENST00000372371.7:c.2481C>G | ENSP00000361446.3:p.Leu827= | |
| ENST00000472014.5:n.469+4600C>G | ||
| NM_007055.3:c.2481C>G | NP_008986.2:p.Leu827= | |
| NM_007055.4:c.2481C>G MANE Select | NP_008986.2:p.Leu827= |