Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445463G= , CM000673.2:g.2445463G= | GRCh38 |
| NC_000011.9:g.2466693G= , CM000673.1:g.2466693G= | GRCh37 |
| NC_000011.8:g.2423269G= | NCBI36 |
| NG_008935.1:g.5473G= , LRG_287:g.5473G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.365G= MANE Select | NP_000209.2:p.Cys122= |
| ENST00000155840.12:c.365G= MANE Select | ENSP00000155840.2:p.Cys122= |
| NM_000218.2:c.365G= , LRG_287t1:c.365G= | NP_000209.2:p.Cys122= |
| ENST00000155840.9:c.365G= | ENSP00000155840.2:p.Cys122= |
| ENST00000345015.4:n.142G= | |
| ENST00000496887.6:c.104G= | ENSP00000434560.1:p.Cys35= |
| ENST00000496887.7:c.104G= | ENSP00000434560.2:p.Cys35= |
| ENST00000646564.1:c.11G= | ENSP00000495806.1:p.Cys4= |
| ENST00000646564.2:c.365G= | ENSP00000495806.2:p.Cys122= |