Linked Data
ClinVar Variation Id:
1442721
dbSNP Id:
rs775160820
ExAC:
10:79759792 G / A
gnomAD v2:
10-79759792-G-A
gnomAD v4:
10-78000034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000034G>A , CM000672.2:g.78000034G>A | GRCh38 |
| NC_000010.10:g.79759792G>A , CM000672.1:g.79759792G>A | GRCh37 |
| NC_000010.9:g.79429798G>A | NCBI36 |
| NG_029648.1:g.34507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1623C>T | ||
| ENST00000698728.1:n.2142C>T | ||
| ENST00000698729.1:n.3688C>T | ||
| ENST00000698730.1:n.3688C>T | ||
| ENST00000698731.1:c.2422C>T | ENSP00000513898.1:p.Arg808Trp | |
| ENST00000698732.1:c.*1424C>T | ENSP00000513899.1:n.*1424C>T | |
| ENST00000698733.1:c.*1750C>T | ENSP00000513900.1:n.*1750C>T | |
| ENST00000698734.1:c.2563C>T | ENSP00000513901.1:p.Arg855Trp | |
| ENST00000698735.1:n.2678C>T | ||
| ENST00000698736.1:n.2678C>T | ||
| ENST00000698737.1:n.2678C>T | ||
| ENST00000698738.1:n.2678C>T | ||
| ENST00000698739.1:n.2678C>T | ||
| ENST00000372371.8:c.2563C>T MANE Select | ENSP00000361446.3:p.Arg855Trp | |
| ENST00000372371.7:c.2563C>T | ENSP00000361446.3:p.Arg855Trp | |
| ENST00000472014.5:n.469+4682C>T | ||
| NM_007055.3:c.2563C>T | NP_008986.2:p.Arg855Trp | |
| NM_007055.4:c.2563C>T MANE Select | NP_008986.2:p.Arg855Trp |