Linked Data
ClinVar Variation Id:
2428725
ClinVar RCV Id:
RCV003120326
dbSNP Id:
rs776531529
ExAC:
16:88786125 G / A
gnomAD v2:
16-88786125-G-A
gnomAD v4:
16-88719717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719717G>A , CM000678.2:g.88719717G>A | GRCh38 |
| NC_000016.9:g.88786125G>A , CM000678.1:g.88786125G>A | GRCh37 |
| NC_000016.8:g.87313626G>A | NCBI36 |
| NG_042229.1:g.70504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6328C>T MANE Select | ENSP00000301015.9:p.Arg2110Trp | |
| ENST00000466823.3:c.354C>T | ||
| ENST00000301015.13:c.6328C>T | ENSP00000301015.9:p.Arg2110Trp | |
| ENST00000419505.5:c.94C>T | ENSP00000406358.1:p.Arg32Trp | |
| ENST00000466823.2:c.354C>T | ||
| ENST00000495568.7:n.569C>T | ||
| ENST00000497793.2:n.483C>T | ||
| NM_001142864.2:c.6328C>T | NP_001136336.2:p.Arg2110Trp | |
| NM_001142864.3:c.6328C>T | NP_001136336.2:p.Arg2110Trp | |
| NM_001142864.4:c.6328C>T MANE Select | NP_001136336.2:p.Arg2110Trp |