Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673527G>A , CM000682.2:g.10673527G>A | GRCh38 |
| NC_000020.10:g.10654175G>A , CM000682.1:g.10654175G>A | GRCh37 |
| NC_000020.9:g.10602175G>A | NCBI36 |
| NG_007496.1:g.5520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.4C>T MANE Select | ENSP00000254958.4:p.Arg2Cys | |
| ENST00000254958.9:c.4C>T | ENSP00000254958.4:p.Arg2Cys | |
| NM_000214.2:c.4C>T | NP_000205.1:p.Arg2Cys | |
| NM_000214.3:c.4C>T MANE Select | NP_000205.1:p.Arg2Cys |