Linked Data
ClinVar Variation Id:
1304100
dbSNP Id:
rs760166121
ExAC:
2:32460590 A / G
gnomAD v2:
2-32460590-A-G
gnomAD v3:
2-32235521-A-G
gnomAD v4:
2-32235521-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32235521A>G , CM000664.2:g.32235521A>G | GRCh38 |
| NC_000002.11:g.32460590A>G , CM000664.1:g.32460590A>G | GRCh37 |
| NC_000002.10:g.32314094A>G | NCBI36 |
| NG_041780.1:g.35223T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.355T>C | ENSP00000498301.2:p.Trp119Arg | |
| ENST00000402280.6:c.2662T>C MANE Select | ENSP00000385428.1:p.Trp888Arg | |
| ENST00000404025.3:c.*368T>C | ENSP00000385090.3:n.*368T>C | |
| ENST00000652197.1:c.*392T>C | ENSP00000498301.1:n.*392T>C | |
| ENST00000342905.10:c.667T>C | ENSP00000339666.6:p.Trp223Arg | |
| ENST00000360906.9:c.2662T>C | ENSP00000354159.5:p.Trp888Arg | |
| ENST00000402280.5:c.2662T>C | ENSP00000385428.1:p.Trp888Arg | |
| ENST00000404025.2:c.2662T>C | ENSP00000385090.2:p.Trp888Arg | |
| NM_001199138.1:c.2662T>C | NP_001186067.1:p.Trp888Arg | |
| NM_001199139.1:c.2662T>C | NP_001186068.1:p.Trp888Arg | |
| NM_001302504.1:c.667T>C | NP_001289433.1:p.Trp223Arg | |
| NM_021209.4:c.2662T>C | NP_067032.3:p.Trp888Arg | |
| XR_001738872.1:n.2928T>C | ||
| NM_001199138.2:c.2662T>C MANE Select | NP_001186067.1:p.Trp888Arg |