Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703314T>G , CM000677.2:g.66703314T>G | GRCh38 |
| NC_000015.9:g.66995652T>G , CM000677.1:g.66995652T>G | GRCh37 |
| NC_000015.8:g.64782706T>G | NCBI36 |
| NG_012244.1:g.5979T>G | |
| NG_012244.2:g.5979T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.56T>G MANE Select | ENSP00000288840.5:p.Val19Gly | |
| ENST00000288840.9:c.56T>G | ENSP00000288840.5:p.Val19Gly | |
| ENST00000557916.5:c.56T>G | ENSP00000452955.1:p.Val19Gly | |
| ENST00000612349.1:n.238T>G | ||
| NM_005585.4:c.56T>G | NP_005576.3:p.Val19Gly | |
| NR_027654.1:n.979T>G | ||
| XR_931825.1:n.1215T>G | ||
| XR_931826.1:n.1215T>G | ||
| XR_931827.1:n.1215T>G | ||
| XR_931827.2:n.1205T>G | ||
| NM_005585.5:c.56T>G MANE Select | NP_005576.3:p.Val19Gly | |
| NR_027654.2:n.1079T>G |