Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022657G>C , CM000663.2:g.17022657G>C | GRCh38 |
| NC_000001.10:g.17349152G>C , CM000663.1:g.17349152G>C | GRCh37 |
| NC_000001.9:g.17221739G>C | NCBI36 |
| NG_012340.1:g.36514C>G , LRG_316:g.36514C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.716C>G MANE Select | NP_002991.2:p.Ser239Cys |
| ENST00000375499.8:c.716C>G MANE Select | ENSP00000364649.3:p.Ser239Cys |
| NM_003000.2:c.716C>G , LRG_316t1:c.716C>G | NP_002991.2:p.Ser239Cys |
| ENST00000375499.7:c.716C>G | ENSP00000364649.3:p.Ser239Cys |
| ENST00000463045.3:c.545C>G | ENSP00000481376.2:p.Ser182Cys |
| ENST00000475049.5:n.141C>G | |
| ENST00000485092.5:n.380C>G | |
| ENST00000485515.5:n.650C>G | |
| ENST00000491274.6:c.674C>G | ENSP00000480482.2:p.Ser225Cys |