Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024041A>G , CM000663.2:g.17024041A>G | GRCh38 |
| NC_000001.10:g.17350536A>G , CM000663.1:g.17350536A>G | GRCh37 |
| NC_000001.9:g.17223123A>G | NCBI36 |
| NG_012340.1:g.35130T>C , LRG_316:g.35130T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.574T>C MANE Select | NP_002991.2:p.Cys192Arg |
| ENST00000375499.8:c.574T>C MANE Select | ENSP00000364649.3:p.Cys192Arg |
| NM_003000.2:c.574T>C , LRG_316t1:c.574T>C | NP_002991.2:p.Cys192Arg |
| ENST00000375499.7:c.574T>C | ENSP00000364649.3:p.Cys192Arg |
| ENST00000463045.3:c.403T>C | ENSP00000481376.2:p.Cys135Arg |
| ENST00000485515.5:n.508T>C | |
| ENST00000491274.5:c.532T>C | ENSP00000480482.1:p.Cys178Arg |
| ENST00000491274.6:c.532T>C | ENSP00000480482.2:p.Cys178Arg |