Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215798944A= , CM000663.2:g.215798944A= | GRCh38 |
| NC_000001.10:g.215972286A= , CM000663.1:g.215972286A= | GRCh37 |
| NC_000001.9:g.214038909A= | NCBI36 |
| NG_009497.1:g.629453T= | |
| NG_009497.2:g.629505T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.9921T= MANE Select | NP_996816.3:p.Cys3307= |
| ENST00000307340.8:c.9921T= MANE Select | ENSP00000305941.3:p.Cys3307= |
| NM_206933.2:c.9921T= | NP_996816.2:p.Cys3307= |
| NM_206933.3:c.9921T= | NP_996816.2:p.Cys3307= |
| ENST00000307340.7:c.9921T= | ENSP00000305941.3:p.Cys3307= |
| ENST00000674083.1:c.9921T= | ENSP00000501296.1:p.Cys3307= |