Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3115014C>T , CM000681.2:g.3115014C>T | GRCh38 |
| NC_000019.9:g.3115012C>T , CM000681.1:g.3115012C>T | GRCh37 |
| NC_000019.8:g.3066012C>T | NCBI36 |
| NG_033852.2:g.25605C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002067.5:c.547C>T MANE Select | NP_002058.2:p.Arg183Cys |
| ENST00000078429.9:c.547C>T MANE Select | ENSP00000078429.3:p.Arg183Cys |
| NM_002067.4:c.547C>T | NP_002058.2:p.Arg183Cys |
| ENST00000078429.8:c.547C>T | ENSP00000078429.3:p.Arg183Cys |
| ENST00000587636.1:c.93C>T | |
| ENST00000588401.1:c.68C>T |