Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48529834G>A , CM000679.2:g.48529834G>A | GRCh38 |
| NC_000017.10:g.46607196G>A , CM000679.1:g.46607196G>A | GRCh37 |
| NC_000017.9:g.43962195G>A | NCBI36 |
| NG_032884.1:g.6077C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002144.4:c.619C>T MANE Select | NP_002135.2:p.Arg207Cys |
| ENST00000239174.7:c.619C>T MANE Select | ENSP00000355140.5:p.Arg207Cys |
| NM_002144.3:c.619C>T | NP_002135.2:p.Arg207Cys |
| ENST00000239174.6:c.619C>T | ENSP00000355140.5:p.Arg207Cys |
| ENST00000577092.1:c.*372C>T | ENSP00000459066.1:n.*372C>T |