Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176693C>G , CM000678.2:g.176693C>G | GRCh38 |
| NC_000016.9:g.226692C>G , CM000678.1:g.226692C>G | GRCh37 |
| NC_000016.8:g.166692C>G | NCBI36 |
| NG_000006.1:g.37556C>G | |
| NG_059186.1:g.5043C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.-24C>G MANE Select | ENSP00000322421.5:n.-24C>G | |
| NM_000558.4:c.-24C>G | NP_000549.1:n.-24C>G | |
| NM_000558.5:c.-24C>G MANE Select | NP_000549.1:n.-24C>G |