Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022685G>A , CM000663.2:g.17022685G>A | GRCh38 |
| NC_000001.10:g.17349180G>A , CM000663.1:g.17349180G>A | GRCh37 |
| NC_000001.9:g.17221767G>A | NCBI36 |
| NG_012340.1:g.36486C>T , LRG_316:g.36486C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.688C>T MANE Select | NP_002991.2:p.Arg230Cys |
| ENST00000375499.8:c.688C>T MANE Select | ENSP00000364649.3:p.Arg230Cys |
| NM_003000.2:c.688C>T , LRG_316t1:c.688C>T | NP_002991.2:p.Arg230Cys |
| ENST00000375499.7:c.688C>T | ENSP00000364649.3:p.Arg230Cys |
| ENST00000463045.3:c.517C>T | ENSP00000481376.2:p.Arg173Cys |
| ENST00000475049.5:n.113C>T | |
| ENST00000485092.5:n.352C>T | |
| ENST00000485515.5:n.622C>T | |
| ENST00000491274.6:c.646C>T | ENSP00000480482.2:p.Arg216Cys |