Linked Data
ClinVar Variation Id:
743680
ClinVar RCV Id:
RCV000920052
dbSNP Id:
rs772685762
ExAC:
10:79764504 C / T
gnomAD v2:
10-79764504-C-T
gnomAD v4:
10-78004746-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78004746C>T , CM000672.2:g.78004746C>T | GRCh38 |
| NC_000010.10:g.79764504C>T , CM000672.1:g.79764504C>T | GRCh37 |
| NC_000010.9:g.79434510C>T | NCBI36 |
| NG_029648.1:g.29795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1277G>A | ||
| ENST00000698728.1:n.1796G>A | ||
| ENST00000698729.1:n.3342G>A | ||
| ENST00000698730.1:n.3342G>A | ||
| ENST00000698731.1:c.2076G>A | ENSP00000513898.1:p.Gln692= | |
| ENST00000698732.1:c.*1078G>A | ENSP00000513899.1:n.*1078G>A | |
| ENST00000698733.1:c.*1404G>A | ENSP00000513900.1:n.*1404G>A | |
| ENST00000698734.1:c.2217G>A | ENSP00000513901.1:p.Gln739= | |
| ENST00000698735.1:n.2332G>A | ||
| ENST00000698736.1:n.2332G>A | ||
| ENST00000698737.1:n.2332G>A | ||
| ENST00000698738.1:n.2332G>A | ||
| ENST00000698739.1:n.2332G>A | ||
| ENST00000372371.8:c.2217G>A MANE Select | ENSP00000361446.3:p.Gln739= | |
| ENST00000372371.7:c.2217G>A | ENSP00000361446.3:p.Gln739= | |
| ENST00000472014.5:n.439G>A | ||
| ENST00000473588.2:c.880G>A | ||
| NM_007055.3:c.2217G>A | NP_008986.2:p.Gln739= | |
| NM_007055.4:c.2217G>A MANE Select | NP_008986.2:p.Gln739= |