Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3795528C>G , CM000682.2:g.3795528C>G | GRCh38 |
| NC_000020.10:g.3776175C>G , CM000682.1:g.3776175C>G | GRCh37 |
| NC_000020.9:g.3724175C>G | NCBI36 |
| NG_029040.2:g.13757C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001287516.1:c.9-2094C>G | NP_001274445.1:n.9-2094C>G |
| NM_001287516.2:c.9-2094C>G | NP_001274445.1:n.9-2094C>G |
| NM_001287517.1:c.9-2136C>G | NP_001274446.1:n.9-2136C>G |
| NM_001287517.2:c.9-2136C>G | NP_001274446.1:n.9-2136C>G |
| NM_001287518.1:c.9-2094C>G | NP_001274447.1:n.9-2094C>G |
| NM_001287518.2:c.9-2094C>G | NP_001274447.1:n.9-2094C>G |
| NR_136336.1:n.369-2094C>G | |
| NR_136336.2:n.190-2094C>G | |
| ENST00000344256.10:c.9-2094C>G | ENSP00000339125.6:n.9-2094C>G |
| ENST00000379598.9:c.9-2094C>G | ENSP00000368918.5:n.9-2094C>G |