Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082779A= , CM000682.2:g.3082779A= | GRCh38 |
| NC_000020.10:g.3063425A= , CM000682.1:g.3063425A= | GRCh37 |
| NC_000020.9:g.3011425A= | NCBI36 |
| NG_008663.1:g.6946T= , LRG_715:g.6946T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000490.5:c.346T= MANE Select | NP_000481.2:p.Cys116= |
| ENST00000380293.3:c.346T= MANE Select | ENSP00000369647.3:p.Cys116= |
| NM_000490.4:c.346T= , LRG_715t1:c.346T= | NP_000481.2:p.Cys116= |
| XM_011529267.1:c.346T= | XP_011527569.1:p.Cys116= |
| XM_011529267.2:c.346T= | XP_011527569.1:p.Cys116= |