Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172872C>G , CM000678.2:g.172872C>G | GRCh38 |
| NC_000016.9:g.222871C>G , CM000678.1:g.222871C>G | GRCh37 |
| NC_000016.8:g.162871C>G | NCBI36 |
| NG_000006.1:g.33735C>G | |
| NG_059186.1:g.1222C>G | |
| NG_059271.1:g.5026C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.4:c.-41C>G | NP_000508.1:n.-41C>G |
| ENST00000251595.10:c.-41C>G | ENSP00000251595.6:n.-41C>G |