Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46686788G>A , CM000682.2:g.46686788G>A | GRCh38 |
| NC_000020.10:g.45315427G>A , CM000682.1:g.45315427G>A | GRCh37 |
| NC_000020.9:g.44748834G>A | NCBI36 |
| NG_047182.1:g.2698C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033550.4:c.727C>T MANE Select | NP_291028.3:p.Arg243Cys |
| ENST00000372114.4:c.727C>T MANE Select | ENSP00000361186.3:p.Arg243Cys |
| NM_033550.3:c.727C>T | NP_291028.3:p.Arg243Cys |
| ENST00000372102.3:c.*366C>T | ENSP00000361174.3:n.*366C>T |
| ENST00000372114.3:c.727C>T | ENSP00000361186.3:p.Arg243Cys |