Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527674T>C , CM000673.2:g.102527674T>C | GRCh38 |
| NC_000011.9:g.102398405T>C , CM000673.1:g.102398405T>C | GRCh37 |
| NC_000011.8:g.101903615T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.336-2A>G MANE Select | ENSP00000260227.4:n.336-2A>G | |
| ENST00000260227.4:c.336-2A>G | ENSP00000260227.4:n.336-2A>G | |
| ENST00000531200.1:n.383-2A>G | ||
| ENST00000533366.5:n.386-2A>G | ||
| NM_002423.3:c.336-2A>G | NP_002414.1:n.336-2A>G | |
| NM_002423.4:c.336-2A>G | NP_002414.1:n.336-2A>G | |
| NM_002423.5:c.336-2A>G MANE Select | NP_002414.1:n.336-2A>G |