Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373820G= , CM000664.2:g.47373820G= | GRCh38 |
| NC_000002.11:g.47600959G= , CM000664.1:g.47600959G= | GRCh37 |
| NC_000002.10:g.47454463G= | NCBI36 |
| NG_012352.2:g.33658G= , LRG_215:g.33658G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.197G= MANE Select | NP_002345.2:p.Cys66= |
| ENST00000263735.9:c.197G= MANE Select | ENSP00000263735.4:p.Cys66= |
| NM_002354.2:c.197G= , LRG_215t1:c.197G= | NP_002345.2:p.Cys66= |
| ENST00000263735.8:c.197G= | ENSP00000263735.4:p.Cys66= |
| ENST00000405271.5:c.281G= | ENSP00000385476.1:p.Cys94= |
| ENST00000419334.1:c.425G= | ENSP00000389028.1:p.Cys142= |
| ENST00000456133.5:c.281G= | ENSP00000410675.1:p.Cys94= |
| ENST00000474691.1:n.465G= | |
| ENST00000490733.1:n.46G= |