Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107989730A>G , CM000666.2:g.107989730A>G | GRCh38 |
| NC_000004.11:g.108910886A>G , CM000666.1:g.108910886A>G | GRCh37 |
| NC_000004.10:g.109130335A>G | NCBI36 |
| NG_008156.2:g.4947A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001184705.2:c.-203A>G | NP_001171634.2:n.-203A>G |
| NM_005327.4:c.-203A>G | NP_005318.3:n.-203A>G |
| ENST00000403312.5:c.-26A>G | ENSP00000385638.2:n.-26A>G |
| ENST00000505878.4:c.-26A>G | ENSP00000425952.2:n.-26A>G |
| ENST00000603302.5:c.-203A>G | ENSP00000474560.1:n.-203A>G |