Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854633G>A , CM000665.2:g.13854633G>A | GRCh38 |
| NC_000003.11:g.13896130G>A , CM000665.1:g.13896130G>A | GRCh37 |
| NC_000003.10:g.13871131G>A | NCBI36 |
| NG_008088.1:g.30489C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004625.4:c.469C>T MANE Select | NP_004616.2:p.Arg157Cys |
| ENST00000285018.5:c.469C>T MANE Select | ENSP00000285018.4:p.Arg157Cys |
| NM_004625.3:c.469C>T | NP_004616.2:p.Arg157Cys |
| ENST00000285018.4:c.469C>T | ENSP00000285018.4:p.Arg157Cys |
| XM_011534090.1:c.268C>T | XP_011532392.1:p.Arg90Cys |
| XM_011534091.1:c.268C>T | XP_011532393.1:p.Arg90Cys |
| XM_011534091.2:c.268C>T | XP_011532393.1:p.Arg90Cys |