Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024057G>A , CM000663.2:g.17024057G>A | GRCh38 |
| NC_000001.10:g.17350552G>A , CM000663.1:g.17350552G>A | GRCh37 |
| NC_000001.9:g.17223139G>A | NCBI36 |
| NG_012340.1:g.35114C>T , LRG_316:g.35114C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.558C>T MANE Select | NP_002991.2:p.Cys186= |
| ENST00000375499.8:c.558C>T MANE Select | ENSP00000364649.3:p.Cys186= |
| NM_003000.2:c.558C>T , LRG_316t1:c.558C>T | NP_002991.2:p.Cys186= |
| ENST00000375499.7:c.558C>T | ENSP00000364649.3:p.Cys186= |
| ENST00000463045.3:c.387C>T | ENSP00000481376.2:p.Cys129= |
| ENST00000485515.5:n.492C>T | |
| ENST00000491274.5:c.516C>T | ENSP00000480482.1:p.Cys172= |
| ENST00000491274.6:c.516C>T | ENSP00000480482.2:p.Cys172= |