Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413384C>A , CM000665.2:g.147413384C>A | GRCh38 |
| NC_000003.11:g.147131171C>A , CM000665.1:g.147131171C>A | GRCh37 |
| NC_000003.10:g.148613861C>A | NCBI36 |
| NG_015886.1:g.8991C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1177C>A MANE Select | ENSP00000282928.4:p.Pro393Thr | |
| ENST00000282928.4:c.1177C>A | ENSP00000282928.4:p.Pro393Thr | |
| ENST00000472523.1:n.521+19442C>A | ||
| ENST00000488404.5:c.243C>A | ||
| NM_003412.3:c.1177C>A | NP_003403.2:p.Pro393Thr | |
| NM_003412.4:c.1177C>A MANE Select | NP_003403.2:p.Pro393Thr |