Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46899455C= , CM000673.2:g.46899455C= | GRCh38 |
| NC_000011.9:g.46921006C= , CM000673.1:g.46921006C= | GRCh37 |
| NC_000011.8:g.46877582C= | NCBI36 |
| NG_021394.1:g.24168G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.479G= MANE Select | NP_002325.2:p.Cys160= |
| ENST00000378623.6:c.479G= MANE Select | ENSP00000367888.1:p.Cys160= |
| NM_002334.3:c.479G= | NP_002325.2:p.Cys160= |
| ENST00000378623.5:c.479G= | ENSP00000367888.1:p.Cys160= |
| ENST00000534404.1:c.332G= | ENSP00000434763.1:p.Cys111= |
| XM_011520102.1:c.692G= | XP_011518404.1:p.Cys231= |
| XM_017017734.1:c.479G= | XP_016873223.1:p.Cys160= |