Linked Data
ClinVar Variation Id:
211926
dbSNP Id:
rs146976547
ExAC:
3:52172214 G / A
gnomAD v2:
3-52172214-G-A
gnomAD v3:
3-52138198-G-A
gnomAD v4:
3-52138198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52138198G>A , CM000665.2:g.52138198G>A | GRCh38 |
| NC_000003.11:g.52172214G>A , CM000665.1:g.52172214G>A | GRCh37 |
| NC_000003.10:g.52147254G>A | NCBI36 |
| NG_032947.1:g.21493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296484.7:c.784C>T MANE Select | ENSP00000296484.2:p.Arg262Trp | |
| ENST00000296484.6:c.784C>T | ENSP00000296484.2:p.Arg262Trp | |
| ENST00000394970.6:c.784C>T | ENSP00000378421.2:p.Arg262Trp | |
| ENST00000474012.1:c.670C>T | ENSP00000418968.1:p.Arg224Trp | |
| NM_001161580.1:c.784C>T | NP_001155052.1:p.Arg262Trp | |
| NM_001161581.1:c.670C>T | NP_001155053.1:p.Arg224Trp | |
| NM_015426.4:c.784C>T | NP_056241.3:p.Arg262Trp | |
| XM_011533560.1:c.784C>T | XP_011531862.1:p.Arg262Trp | |
| XM_011533561.1:c.784C>T | XP_011531863.1:p.Arg262Trp | |
| XM_011533562.1:c.784C>T | XP_011531864.1:p.Arg262Trp | |
| XM_011533563.1:c.679+7648C>T | XP_011531865.1:n.679+7648C>T | |
| XM_011533564.1:c.679+7648C>T | XP_011531866.1:n.679+7648C>T | |
| XM_011533565.1:c.679+7648C>T | XP_011531867.1:n.679+7648C>T | |
| XR_940401.1:n.824C>T | ||
| XR_940402.1:n.719+7648C>T | ||
| XR_940403.1:n.719+7648C>T | ||
| XM_011533562.2:c.784C>T | XP_011531864.1:p.Arg262Trp | |
| XM_011533564.3:c.679+7648C>T | XP_011531866.1:n.679+7648C>T | |
| XM_011533565.2:c.679+7648C>T | XP_011531867.1:n.679+7648C>T | |
| XM_017006104.1:c.670C>T | XP_016861593.1:p.Arg224Trp | |
| XR_001740088.1:n.824C>T | ||
| NM_001161580.2:c.784C>T | NP_001155052.1:p.Arg262Trp | |
| NM_001161581.2:c.670C>T | NP_001155053.1:p.Arg224Trp | |
| NM_015426.5:c.784C>T MANE Select | NP_056241.3:p.Arg262Trp |