Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168645G>C , CM000673.2:g.118168645G>C | GRCh38 |
| NC_000011.9:g.118039360G>C , CM000673.1:g.118039360G>C | GRCh37 |
| NC_000011.8:g.117544570G>C | NCBI36 |
| NG_042217.1:g.12978C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.177C>G MANE Select | ENSP00000278947.5:p.Asn59Lys | |
| ENST00000658882.1:c.*2C>G | ENSP00000499572.1:n.*2C>G | |
| ENST00000665446.1:n.413C>G | ||
| ENST00000669850.1:n.419C>G | ||
| ENST00000278947.5:c.177C>G | ENSP00000278947.5:p.Asn59Lys | |
| NM_004588.4:c.177C>G | NP_004579.1:p.Asn59Lys | |
| NM_004588.5:c.177C>G MANE Select | NP_004579.1:p.Asn59Lys |