Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452457C>G , CM000667.2:g.119452457C>G | GRCh38 |
| NC_000005.9:g.118788152C>G , CM000667.1:g.118788152C>G | GRCh37 |
| NC_000005.8:g.118816051C>G | NCBI36 |
| NG_008182.1:g.5005C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000414.3:c.-119C>G | NP_000405.1:n.-119C>G |
| NM_001199292.1:c.-119C>G | NP_001186221.1:n.-119C>G |
| NM_001292027.1:c.-256C>G | NP_001278956.1:n.-256C>G |
| ENST00000256216.10:c.-119C>G | ENSP00000256216.6:n.-119C>G |