Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29297036G>A , CM000664.2:g.29297036G>A | GRCh38 |
| NC_000002.11:g.29519902G>A , CM000664.1:g.29519902G>A | GRCh37 |
| NC_000002.10:g.29373406G>A | NCBI36 |
| NG_009445.1:g.629531C>T , LRG_488:g.629531C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1669C>T MANE Select | NP_004295.2:p.Arg557Cys |
| ENST00000389048.8:c.1669C>T MANE Select | ENSP00000373700.3:p.Arg557Cys |
| NM_004304.4:c.1669C>T | NP_004295.2:p.Arg557Cys |
| ENST00000389048.7:c.1669C>T | ENSP00000373700.3:p.Arg557Cys |
| ENST00000498037.1:n.224C>T | |
| ENST00000618119.4:c.538C>T | ENSP00000482733.1:p.Arg180Cys |
| XR_001738688.2:n.2599C>T |