Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527883A>G , CM000673.2:g.102527883A>G | GRCh38 |
| NC_000011.9:g.102398614A>G , CM000673.1:g.102398614A>G | GRCh37 |
| NC_000011.8:g.101903824A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.209T>C MANE Select | ENSP00000260227.4:p.Ile70Thr | |
| ENST00000260227.4:c.209T>C | ENSP00000260227.4:p.Ile70Thr | |
| ENST00000531200.1:n.256T>C | ||
| ENST00000533366.5:n.259T>C | ||
| NM_002423.3:c.209T>C | NP_002414.1:p.Ile70Thr | |
| NM_002423.4:c.209T>C | NP_002414.1:p.Ile70Thr | |
| NM_002423.5:c.209T>C MANE Select | NP_002414.1:p.Ile70Thr |