Linked Data
ClinVar Variation Id:
235466
dbSNP Id:
rs148932047
ExAC:
10:79753125 G / A
gnomAD v2:
10-79753125-G-A
gnomAD v3:
10-77993367-G-A
gnomAD v4:
10-77993367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77993367G>A , CM000672.2:g.77993367G>A | GRCh38 |
| NC_000010.10:g.79753125G>A , CM000672.1:g.79753125G>A | GRCh37 |
| NC_000010.9:g.79423131G>A | NCBI36 |
| NG_029648.1:g.41174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1677C>T | ||
| ENST00000698728.1:n.2196C>T | ||
| ENST00000698729.1:n.3742C>T | ||
| ENST00000698730.1:n.3742C>T | ||
| ENST00000698731.1:c.2476C>T | ENSP00000513898.1:p.Arg826Ter | |
| ENST00000698732.1:c.*1478C>T | ENSP00000513899.1:n.*1478C>T | |
| ENST00000698733.1:c.*1804C>T | ENSP00000513900.1:n.*1804C>T | |
| ENST00000698734.1:c.*141C>T | ENSP00000513901.1:n.*141C>T | |
| ENST00000698735.1:n.2732C>T | ||
| ENST00000698736.1:n.2732C>T | ||
| ENST00000698737.1:n.2732C>T | ||
| ENST00000698738.1:n.2732C>T | ||
| ENST00000698739.1:n.2732C>T | ||
| ENST00000372371.8:c.2617C>T MANE Select | ENSP00000361446.3:p.Arg873Ter | |
| ENST00000372371.7:c.2617C>T | ENSP00000361446.3:p.Arg873Ter | |
| ENST00000472014.5:n.470C>T | ||
| NM_007055.3:c.2617C>T | NP_008986.2:p.Arg873Ter | |
| NM_007055.4:c.2617C>T MANE Select | NP_008986.2:p.Arg873Ter |