Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776841T>G , CM000677.2:g.89776841T>G | GRCh38 |
| NC_000015.9:g.90320072T>G , CM000677.1:g.90320072T>G | GRCh37 |
| NC_000015.8:g.88121076T>G | NCBI36 |
| NG_008608.1:g.5484T>G | |
| NG_008608.2:g.21251T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.484T>G MANE Select | ENSP00000342392.3:p.Cys162Gly | |
| ENST00000341735.3:c.484T>G | ENSP00000342392.3:p.Cys162Gly | |
| ENST00000558723.1:n.39-1224T>G | ||
| ENST00000560219.2:c.31-1224T>G | ENSP00000452998.1:n.31-1224T>G | |
| NM_001039958.1:c.484T>G | NP_001035047.1:p.Cys162Gly | |
| NM_001039958.2:c.484T>G MANE Select | NP_001035047.1:p.Cys162Gly |