Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640119C= , CM000673.2:g.640119C= | GRCh38 |
| NC_000011.9:g.640119C= , CM000673.1:g.640119C= | GRCh37 |
| NC_000011.8:g.630119C= | NCBI36 |
| NG_021241.1:g.7815C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000797.4:c.870C= MANE Select | NP_000788.2:p.Cys290= |
| ENST00000176183.6:c.870C= MANE Select | ENSP00000176183.5:p.Cys290= |
| NM_000797.3:c.870C= | NP_000788.2:p.Cys290= |
| ENST00000176183.5:c.870C= | ENSP00000176183.5:p.Cys290= |