Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172889C>G , CM000678.2:g.172889C>G | GRCh38 |
| NC_000016.9:g.222888C>G , CM000678.1:g.222888C>G | GRCh37 |
| NC_000016.8:g.162888C>G | NCBI36 |
| NG_000006.1:g.33752C>G | |
| NG_059186.1:g.1239C>G | |
| NG_059271.1:g.5043C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-24C>G MANE Select | ENSP00000251595.6:n.-24C>G | |
| ENST00000251595.10:c.-24C>G | ENSP00000251595.6:n.-24C>G | |
| NM_000517.4:c.-24C>G | NP_000508.1:n.-24C>G | |
| NM_000517.6:c.-24C>G MANE Select | NP_000508.1:n.-24C>G |