Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741244G>A , CM000670.2:g.142741244G>A | GRCh38 |
| NC_000008.10:g.143822662G>A , CM000670.1:g.143822662G>A | GRCh37 |
| NC_000008.9:g.143819664G>A | NCBI36 |
| NG_011494.1:g.6168C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020427.3:c.211C>T MANE Select | NP_065160.1:p.Arg71Cys |
| ENST00000246515.2:c.211C>T MANE Select | ENSP00000246515.1:p.Arg71Cys |
| NM_020427.2:c.211C>T | NP_065160.1:p.Arg71Cys |
| ENST00000246515.1:c.211C>T | ENSP00000246515.1:p.Arg71Cys |