Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35285003C>A , CM000681.2:g.35285003C>A | GRCh38 |
| NC_000019.9:g.35775906C>A , CM000681.1:g.35775906C>A | GRCh37 |
| NC_000019.8:g.40467746C>A | NCBI36 |
| NG_011563.1:g.7497C>A | |
| NG_011563.2:g.7497C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222304.5:c.216C>A MANE Select | ENSP00000222304.2:p.Cys72Ter | |
| ENST00000222304.3:c.216C>A | ENSP00000222304.2:p.Cys72Ter | |
| ENST00000593580.1:n.2487C>A | ||
| ENST00000598398.5:c.216C>A | ENSP00000471894.1:p.Cys72Ter | |
| NM_021175.2:c.216C>A | NP_066998.1:p.Cys72Ter | |
| NM_021175.3:c.216C>A | NP_066998.1:p.Cys72Ter | |
| NM_021175.4:c.216C>A MANE Select | NP_066998.1:p.Cys72Ter |