Linked Data
ClinVar Variation Id:
2007420
ClinVar RCV Id:
RCV002842305
dbSNP Id:
rs755806110
ExAC:
10:79769688 A / G
gnomAD v2:
10-79769688-A-G
gnomAD v4:
10-78009930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009930A>G , CM000672.2:g.78009930A>G | GRCh38 |
| NC_000010.10:g.79769688A>G , CM000672.1:g.79769688A>G | GRCh37 |
| NC_000010.9:g.79439694A>G | NCBI36 |
| NG_029648.1:g.24611T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1283T>C | ||
| ENST00000698729.1:n.2829T>C | ||
| ENST00000698730.1:n.2829T>C | ||
| ENST00000698731.1:c.1563T>C | ENSP00000513898.1:p.Ile521= | |
| ENST00000698732.1:c.*565T>C | ENSP00000513899.1:n.*565T>C | |
| ENST00000698733.1:c.*891T>C | ENSP00000513900.1:n.*891T>C | |
| ENST00000698734.1:c.1704T>C | ENSP00000513901.1:p.Ile568= | |
| ENST00000698735.1:n.1819T>C | ||
| ENST00000698736.1:n.1819T>C | ||
| ENST00000698737.1:n.1819T>C | ||
| ENST00000698738.1:n.1819T>C | ||
| ENST00000698739.1:n.1819T>C | ||
| ENST00000372371.8:c.1704T>C MANE Select | ENSP00000361446.3:p.Ile568= | |
| ENST00000372371.7:c.1704T>C | ENSP00000361446.3:p.Ile568= | |
| ENST00000473588.2:c.506T>C | ||
| NM_007055.3:c.1704T>C | NP_008986.2:p.Ile568= | |
| NM_007055.4:c.1704T>C MANE Select | NP_008986.2:p.Ile568= |