Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328351G>A , CM000664.2:g.29328351G>A | GRCh38 |
| NC_000002.11:g.29551217G>A , CM000664.1:g.29551217G>A | GRCh37 |
| NC_000002.10:g.29404721G>A | NCBI36 |
| NG_009445.1:g.598216C>T , LRG_488:g.598216C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1413C>T MANE Select | NP_004295.2:p.Cys471= |
| ENST00000389048.8:c.1413C>T MANE Select | ENSP00000373700.3:p.Cys471= |
| NM_004304.4:c.1413C>T | NP_004295.2:p.Cys471= |
| ENST00000389048.7:c.1413C>T | ENSP00000373700.3:p.Cys471= |
| ENST00000618119.4:c.282C>T | ENSP00000482733.1:p.Cys94= |
| XR_001738688.2:n.2343C>T | |
| XR_939920.1:n.693-34G>A | |
| XR_939920.2:n.583-34G>A | |
| XR_939921.1:n.680+5823G>A | |
| XR_939921.2:n.576+5823G>A |