Linked Data
ClinVar Variation Id:
245994
dbSNP Id:
rs137994522
ExAC:
1:156843514 C / T
gnomAD v2:
1-156843514-C-T
gnomAD v3:
1-156873722-C-T
gnomAD v4:
1-156873722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156873722C>T , CM000663.2:g.156873722C>T | GRCh38 |
| NC_000001.10:g.156843514C>T , CM000663.1:g.156843514C>T | GRCh37 |
| NC_000001.9:g.155110138C>T | NCBI36 |
| NG_007493.1:g.62973C>T , LRG_261:g.62973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.778C>T | ENSP00000502725.1:p.Arg260Cys | |
| ENST00000392302.7:c.778C>T | ENSP00000376120.3:p.Arg260Cys | |
| ENST00000497019.7:c.645C>T | ENSP00000436804.2:p.Cys215= | |
| ENST00000524377.7:c.940C>T MANE Select | ENSP00000431418.1:p.Arg314Cys | |
| ENST00000674537.1:c.778C>T | ENSP00000502725.1:p.Arg260Cys | |
| ENST00000358660.3:c.940C>T | ENSP00000351486.3:p.Arg314Cys | |
| ENST00000368196.7:c.940C>T | ENSP00000357179.3:p.Arg314Cys | |
| ENST00000392302.6:c.850C>T | ENSP00000376120.2:p.Arg284Cys | |
| ENST00000489021.6:n.402C>T | ||
| ENST00000497019.6:c.717C>T | ENSP00000436804.1:p.Cys239= | |
| ENST00000524377.5:c.940C>T | ENSP00000431418.1:p.Arg314Cys | |
| ENST00000530298.5:n.998C>T | ||
| NM_001007792.1:c.850C>T , LRG_261t1:c.850C>T | NP_001007793.1:p.Arg284Cys | |
| NM_001012331.1:c.940C>T , LRG_261t2:c.940C>T | NP_001012331.1:p.Arg314Cys | |
| NM_002529.3:c.940C>T , LRG_261t3:c.940C>T | NP_002520.2:p.Arg314Cys | |
| NM_001012331.2:c.940C>T | NP_001012331.1:p.Arg314Cys | |
| NM_002529.4:c.940C>T MANE Select | NP_002520.2:p.Arg314Cys |