Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352047C>A , CM000679.2:g.44352047C>A | GRCh38 |
| NC_000017.10:g.42429415C>A , CM000679.1:g.42429415C>A | GRCh37 |
| NC_000017.9:g.39784941C>A | NCBI36 |
| NG_007886.1:g.11925C>A , LRG_661:g.11925C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002087.4:c.1212C>A MANE Select | NP_002078.1:p.Cys404Ter |
| ENST00000053867.8:c.1212C>A MANE Select | ENSP00000053867.2:p.Cys404Ter |
| NM_002087.3:c.1212C>A | NP_002078.1:p.Cys404Ter |
| ENST00000053867.7:c.1212C>A | ENSP00000053867.2:p.Cys404Ter |
| ENST00000586443.1:c.653C>A | |
| ENST00000589265.5:c.741C>A | ENSP00000467616.1:p.Cys247Ter |
| ENST00000639447.1:c.1136+295C>A | ENSP00000492014.1:n.1136+295C>A |
| XM_005257253.1:c.1212C>A | XP_005257310.1:p.Cys404Ter |
| XM_024450730.1:c.1212C>A | XP_024306498.1:p.Cys404Ter |