Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413481C>G , CM000665.2:g.147413481C>G | GRCh38 |
| NC_000003.11:g.147131268C>G , CM000665.1:g.147131268C>G | GRCh37 |
| NC_000003.10:g.148613958C>G | NCBI36 |
| NG_015886.1:g.9088C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1274C>G MANE Select | ENSP00000282928.4:p.Ser425Cys | |
| ENST00000282928.4:c.1274C>G | ENSP00000282928.4:p.Ser425Cys | |
| ENST00000472523.1:n.521+19539C>G | ||
| ENST00000488404.5:c.340C>G | ||
| NM_003412.3:c.1274C>G | NP_003403.2:p.Ser425Cys | |
| NM_003412.4:c.1274C>G MANE Select | NP_003403.2:p.Ser425Cys |