Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173335C>G , CM000678.2:g.173335C>G | GRCh38 |
| NC_000016.9:g.223334C>G , CM000678.1:g.223334C>G | GRCh37 |
| NC_000016.8:g.163334C>G | NCBI36 |
| NG_000006.1:g.34198C>G | |
| NG_059186.1:g.1685C>G | |
| NG_059271.1:g.5489C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+6C>G MANE Select | ENSP00000251595.6:n.300+6C>G | |
| ENST00000251595.10:c.300+6C>G | ENSP00000251595.6:n.300+6C>G | |
| ENST00000397806.1:c.204+6C>G | ENSP00000380908.1:n.204+6C>G | |
| ENST00000482565.1:n.436+6C>G | ||
| ENST00000484216.1:n.275C>G | ||
| NM_000517.4:c.300+6C>G | NP_000508.1:n.300+6C>G | |
| NM_000517.6:c.300+6C>G MANE Select | NP_000508.1:n.300+6C>G |