Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70628913A>G , CM000666.2:g.70628913A>G | GRCh38 |
| NC_000004.11:g.71494630A>G , CM000666.1:g.71494630A>G | GRCh37 |
| NG_013024.1:g.5170A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396073.4:c.-112A>G MANE Select | ENSP00000379383.4:n.-112A>G | |
| ENST00000396073.3:c.-112A>G | ENSP00000379383.3:n.-112A>G | |
| NM_031889.2:c.-112A>G | NP_114095.2:n.-112A>G | |
| XM_006714056.2:c.-588A>G | XP_006714119.1:n.-588A>G | |
| XM_006714056.4:c.-588A>G | XP_006714119.1:n.-588A>G | |
| NM_031889.3:c.-112A>G MANE Select | NP_114095.2:n.-112A>G |