Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5981988C= , CM000674.2:g.5981988C= | GRCh38 |
| NC_000012.11:g.6091154C= , CM000674.1:g.6091154C= | GRCh37 |
| NC_000012.10:g.5961415C= | NCBI36 |
| NG_009072.1:g.147683G= | |
| NG_009072.2:g.147683G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.7085G= MANE Select | NP_000543.3:p.Cys2362= |
| ENST00000261405.10:c.7085G= MANE Select | ENSP00000261405.5:p.Cys2362= |
| NM_000552.3:c.7085G= | NP_000543.2:p.Cys2362= |
| NM_000552.4:c.7085G= | NP_000543.2:p.Cys2362= |
| ENST00000261405.9:c.7085G= | ENSP00000261405.5:p.Cys2362= |