Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35285003C= , CM000681.2:g.35285003C= | GRCh38 |
| NC_000019.9:g.35775906C= , CM000681.1:g.35775906C= | GRCh37 |
| NC_000019.8:g.40467746C= | NCBI36 |
| NG_011563.1:g.7497C= | |
| NG_011563.2:g.7497C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021175.4:c.216C= MANE Select | NP_066998.1:p.Cys72= |
| ENST00000222304.5:c.216C= MANE Select | ENSP00000222304.2:p.Cys72= |
| NM_021175.2:c.216C= | NP_066998.1:p.Cys72= |
| NM_021175.3:c.216C= | NP_066998.1:p.Cys72= |
| ENST00000222304.3:c.216C= | ENSP00000222304.2:p.Cys72= |
| ENST00000593580.1:n.2487C= | |
| ENST00000598398.5:c.216C= | ENSP00000471894.1:p.Cys72= |