Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215845831G= , CM000663.2:g.215845831G= | GRCh38 |
| NC_000001.10:g.216019173G= , CM000663.1:g.216019173G= | GRCh37 |
| NC_000001.9:g.214085796G= | NCBI36 |
| NG_009497.1:g.582566C= | |
| NG_009497.2:g.582618C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.9048C= MANE Select | NP_996816.3:p.Cys3016= |
| ENST00000307340.8:c.9048C= MANE Select | ENSP00000305941.3:p.Cys3016= |
| NM_206933.2:c.9048C= | NP_996816.2:p.Cys3016= |
| NM_206933.3:c.9048C= | NP_996816.2:p.Cys3016= |
| ENST00000307340.7:c.9048C= | ENSP00000305941.3:p.Cys3016= |
| ENST00000674083.1:c.9048C= | ENSP00000501296.1:p.Cys3016= |