Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001263C= , CM000683.2:g.46001263C= | GRCh38 |
| NC_000021.8:g.47421177C= , CM000683.1:g.47421177C= | GRCh37 |
| NC_000021.7:g.46245605C= | NCBI36 |
| NG_008674.1:g.24515C= , LRG_475:g.24515C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.232C= | ||
| ENST00000361866.8:c.1833C= MANE Select | ENSP00000355180.3:p.Cys611= | |
| ENST00000361866.7:c.1833C= | ENSP00000355180.3:p.Cys611= | |
| ENST00000463060.5:n.232C= | ||
| ENST00000498614.5:n.67C= | ||
| ENST00000612273.1:c.1827C= | ENSP00000483630.1:p.Cys609= | |
| NM_001848.2:c.1833C= , LRG_475t1:c.1833C= | NP_001839.2:p.Cys611= | |
| NM_001848.3:c.1833C= MANE Select | NP_001839.2:p.Cys611= |