Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144317G>A , CM000670.2:g.38144317G>A | GRCh38 |
| NC_000008.10:g.38001835G>A , CM000670.1:g.38001835G>A | GRCh37 |
| NC_000008.9:g.38120992G>A | NCBI36 |
| NG_011827.1:g.11766C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.814C>T MANE Select | NP_000340.2:p.Arg272Cys |
| ENST00000276449.9:c.814C>T MANE Select | ENSP00000276449.3:p.Arg272Cys |
| NM_000349.2:c.814C>T | NP_000340.2:p.Arg272Cys |
| ENST00000276449.8:c.814C>T | ENSP00000276449.3:p.Arg272Cys |
| ENST00000520114.1:n.2783C>T | |
| ENST00000522050.1:c.656C>T | |
| XM_006716392.1:c.720C>T | XP_006716455.1:p.Cys240= |