Linked Data
dbSNP Id:
rs779655618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887639C>A , CM000664.2:g.72887639C>A | GRCh38 |
| NC_000002.11:g.73114768C>A , CM000664.1:g.73114768C>A | GRCh37 |
| NC_000002.10:g.72968276C>A | NCBI36 |
| NG_008234.1:g.5257C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.207C>A MANE Select | ENSP00000234454.5:p.Asp69Glu | |
| ENST00000234454.5:c.207C>A | ENSP00000234454.5:p.Asp69Glu | |
| ENST00000498749.1:n.258C>A | ||
| NM_003124.4:c.207C>A | NP_003115.1:p.Asp69Glu | |
| NM_003124.5:c.207C>A MANE Select | NP_003115.1:p.Asp69Glu |