Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29318387T>A , CM000664.2:g.29318387T>A | GRCh38 |
| NC_000002.11:g.29541253T>A , CM000664.1:g.29541253T>A | GRCh37 |
| NC_000002.10:g.29394757T>A | NCBI36 |
| NG_009445.1:g.608180A>T , LRG_488:g.608180A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1564A>T MANE Select | NP_004295.2:p.Ser522Cys |
| ENST00000389048.8:c.1564A>T MANE Select | ENSP00000373700.3:p.Ser522Cys |
| NM_004304.4:c.1564A>T | NP_004295.2:p.Ser522Cys |
| ENST00000389048.7:c.1564A>T | ENSP00000373700.3:p.Ser522Cys |
| ENST00000498037.1:n.119A>T | |
| ENST00000618119.4:c.433A>T | ENSP00000482733.1:p.Ser145Cys |
| XR_001738688.2:n.2494A>T |