Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113903395A>G , CM000673.2:g.113903395A>G | GRCh38 |
| NC_000011.9:g.113774117A>G , CM000673.1:g.113774117A>G | GRCh37 |
| NC_000011.8:g.113279327A>G | NCBI36 |
| NG_011483.1:g.3529A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011543064.1:c.12+4312A>G | XP_011541366.1:n.12+4312A>G | |
| XM_024448767.1:c.-243+4312A>G | XP_024304535.1:n.-243+4312A>G |