dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71463507C>G , CM000673.2:g.71463507C>G | GRCh38 |
| NC_000011.9:g.71174553C>G , CM000673.1:g.71174553C>G | GRCh37 |
| NC_000011.8:g.70852201C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319023.7:c.317+22C>G MANE Select | ENSP00000326424.2:n.317+22C>G | |
| ENST00000319023.6:c.317+22C>G | ENSP00000326424.2:n.317+22C>G | |
| ENST00000524949.5:n.383+22C>G | ||
| ENST00000525200.5:c.217+22C>G | ||
| ENST00000528509.5:c.317+22C>G | ENSP00000433472.1:n.317+22C>G | |
| ENST00000529120.5:c.*62+22C>G | ENSP00000437220.1:n.*62+22C>G | |
| ENST00000533769.5:n.383+22C>G | ||
| NM_018161.4:c.317+22C>G | NP_060631.2:n.317+22C>G | |
| NM_018161.5:c.317+22C>G MANE Select | NP_060631.2:n.317+22C>G |