Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102577348G>C , CM000673.2:g.102577348G>C | GRCh38 |
| NC_000011.9:g.102448079G>C , CM000673.1:g.102448079G>C | GRCh37 |
| NC_000011.8:g.101953289G>C | NCBI36 |
| NG_012151.1:g.52985C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260228.3:c.1430C>G MANE Select | ENSP00000260228.2:p.Ser477Cys | |
| ENST00000260228.2:c.1430C>G | ENSP00000260228.2:p.Ser477Cys | |
| ENST00000542305.1:n.328C>G | ||
| NM_004771.3:c.1430C>G | NP_004762.2:p.Ser477Cys | |
| NM_004771.4:c.1430C>G MANE Select | NP_004762.2:p.Ser477Cys |