Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38851012C>T , CM000675.2:g.38851012C>T | GRCh38 |
| NC_000013.10:g.39425149C>T , CM000675.1:g.39425149C>T | GRCh37 |
| NC_000013.9:g.38323149C>T | NCBI36 |
| NG_008125.2:g.168977C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.6646C>T MANE Select | NP_997244.4:p.Arg2216Cys |
| ENST00000280481.9:c.6646C>T MANE Select | ENSP00000280481.7:p.Arg2216Cys |
| NM_207361.5:c.6646C>T | NP_997244.4:p.Arg2216Cys |
| ENST00000280481.8:c.6646C>T | ENSP00000280481.7:p.Arg2216Cys |
| XM_011535057.1:c.6646C>T | XP_011533359.1:p.Arg2216Cys |