Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92645530C>G , CM000672.2:g.92645530C>G | GRCh38 |
| NC_000010.10:g.94405287C>G , CM000672.1:g.94405287C>G | GRCh37 |
| NC_000010.9:g.94395267C>G | NCBI36 |
| NG_032580.1:g.57463C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2435C>G MANE Select | ENSP00000260731.3:p.Ser812Cys | |
| ENST00000676621.1:c.*953C>G | ENSP00000503639.1:n.*953C>G | |
| ENST00000676647.1:c.2228C>G | ENSP00000503394.1:p.Ser743Cys | |
| ENST00000676757.1:c.2228C>G | ENSP00000504289.1:p.Ser743Cys | |
| ENST00000677720.1:c.*409C>G | ENSP00000504840.1:n.*409C>G | |
| ENST00000260731.4:c.2435C>G | ENSP00000260731.3:p.Ser812Cys | |
| NM_004523.3:c.2435C>G | NP_004514.2:p.Ser812Cys | |
| NM_004523.4:c.2435C>G MANE Select | NP_004514.2:p.Ser812Cys |