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