Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312669A>G , CM000673.2:g.118312669A>G | GRCh38 |
| NC_000011.9:g.118183384A>G , CM000673.1:g.118183384A>G | GRCh37 |
| NC_000011.8:g.117688594A>G | NCBI36 |
| NG_007383.1:g.13090A>G , LRG_38:g.13090A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.155A>G MANE Select | ENSP00000354566.4:p.Tyr52Cys | |
| ENST00000361763.8:c.155A>G | ENSP00000354566.4:p.Tyr52Cys | |
| ENST00000526146.5:n.701A>G | ||
| ENST00000528435.5:n.708A>G | ||
| ENST00000528600.1:c.137A>G | ENSP00000433975.1:p.Tyr46Cys | |
| ENST00000529713.5:n.261A>G | ||
| ENST00000531913.1:n.526A>G | ||
| NM_000733.3:c.155A>G , LRG_38t1:c.155A>G | NP_000724.1:p.Tyr52Cys | |
| NM_000733.4:c.155A>G MANE Select | NP_000724.1:p.Tyr52Cys |