Linked Data
ClinVar Variation Id:
1605800
ClinVar RCV Id:
RCV002151980
dbSNP Id:
rs150105323
ExAC:
10:79769673 A / C
gnomAD v2:
10-79769673-A-C
gnomAD v3:
10-78009915-A-C
gnomAD v4:
10-78009915-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009915A>C , CM000672.2:g.78009915A>C | GRCh38 |
| NC_000010.10:g.79769673A>C , CM000672.1:g.79769673A>C | GRCh37 |
| NC_000010.9:g.79439679A>C | NCBI36 |
| NG_029648.1:g.24626T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1298T>G | ||
| ENST00000698729.1:n.2844T>G | ||
| ENST00000698730.1:n.2844T>G | ||
| ENST00000698731.1:c.1578T>G | ENSP00000513898.1:p.Val526= | |
| ENST00000698732.1:c.*580T>G | ENSP00000513899.1:n.*580T>G | |
| ENST00000698733.1:c.*906T>G | ENSP00000513900.1:n.*906T>G | |
| ENST00000698734.1:c.1719T>G | ENSP00000513901.1:p.Val573= | |
| ENST00000698735.1:n.1834T>G | ||
| ENST00000698736.1:n.1834T>G | ||
| ENST00000698737.1:n.1834T>G | ||
| ENST00000698738.1:n.1834T>G | ||
| ENST00000698739.1:n.1834T>G | ||
| ENST00000372371.8:c.1719T>G MANE Select | ENSP00000361446.3:p.Val573= | |
| ENST00000372371.7:c.1719T>G | ENSP00000361446.3:p.Val573= | |
| ENST00000473588.2:c.521T>G | ||
| NM_007055.3:c.1719T>G | NP_008986.2:p.Val573= | |
| NM_007055.4:c.1719T>G MANE Select | NP_008986.2:p.Val573= |