ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156868246T>C , CM000663.2:g.156868246T>C | GRCh38 |
| NC_000001.10:g.156838038T>C , CM000663.1:g.156838038T>C | GRCh37 |
| NC_000001.9:g.155104662T>C | NCBI36 |
| NG_007493.1:g.57497T>C , LRG_261:g.57497T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.409T>C | ENSP00000502725.1:p.Cys137Arg | |
| ENST00000392302.7:c.409T>C | ENSP00000376120.3:p.Cys137Arg | |
| ENST00000497019.7:c.409T>C | ENSP00000436804.2:p.Cys137Arg | |
| ENST00000524377.7:c.571T>C MANE Select | ENSP00000431418.1:p.Cys191Arg | |
| ENST00000674537.1:c.409T>C | ENSP00000502725.1:p.Cys137Arg | |
| ENST00000358660.3:c.571T>C | ENSP00000351486.3:p.Cys191Arg | |
| ENST00000368196.7:c.571T>C | ENSP00000357179.3:p.Cys191Arg | |
| ENST00000392302.6:c.481T>C | ENSP00000376120.2:p.Cys161Arg | |
| ENST00000489021.6:n.313-5387T>C | ||
| ENST00000497019.6:c.481T>C | ENSP00000436804.1:p.Cys161Arg | |
| ENST00000524377.5:c.571T>C | ENSP00000431418.1:p.Cys191Arg | |
| ENST00000530298.5:n.629T>C | ||
| NM_001007792.1:c.481T>C , LRG_261t1:c.481T>C | NP_001007793.1:p.Cys161Arg | |
| NM_001012331.1:c.571T>C , LRG_261t2:c.571T>C | NP_001012331.1:p.Cys191Arg | |
| NM_002529.3:c.571T>C , LRG_261t3:c.571T>C | NP_002520.2:p.Cys191Arg | |
| NM_001012331.2:c.571T>C | NP_001012331.1:p.Cys191Arg | |
| NM_002529.4:c.571T>C MANE Select | NP_002520.2:p.Cys191Arg |