Linked Data
ClinVar Variation Id:
2076095
ClinVar RCV Id:
RCV002968132
dbSNP Id:
rs762851435
ExAC:
10:79759822 T / C
gnomAD v2:
10-79759822-T-C
gnomAD v3:
10-78000064-T-C
gnomAD v4:
10-78000064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000064T>C , CM000672.2:g.78000064T>C | GRCh38 |
| NC_000010.10:g.79759822T>C , CM000672.1:g.79759822T>C | GRCh37 |
| NC_000010.9:g.79429828T>C | NCBI36 |
| NG_029648.1:g.34477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1593A>G | ||
| ENST00000698728.1:n.2112A>G | ||
| ENST00000698729.1:n.3658A>G | ||
| ENST00000698730.1:n.3658A>G | ||
| ENST00000698731.1:c.2392A>G | ENSP00000513898.1:p.Thr798Ala | |
| ENST00000698732.1:c.*1394A>G | ENSP00000513899.1:n.*1394A>G | |
| ENST00000698733.1:c.*1720A>G | ENSP00000513900.1:n.*1720A>G | |
| ENST00000698734.1:c.2533A>G | ENSP00000513901.1:p.Thr845Ala | |
| ENST00000698735.1:n.2648A>G | ||
| ENST00000698736.1:n.2648A>G | ||
| ENST00000698737.1:n.2648A>G | ||
| ENST00000698738.1:n.2648A>G | ||
| ENST00000698739.1:n.2648A>G | ||
| ENST00000372371.8:c.2533A>G MANE Select | ENSP00000361446.3:p.Thr845Ala | |
| ENST00000372371.7:c.2533A>G | ENSP00000361446.3:p.Thr845Ala | |
| ENST00000472014.5:n.469+4652A>G | ||
| NM_007055.3:c.2533A>G | NP_008986.2:p.Thr845Ala | |
| NM_007055.4:c.2533A>G MANE Select | NP_008986.2:p.Thr845Ala |