Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122052011G>C , CM000665.2:g.122052011G>C | GRCh38 |
| NC_000003.11:g.121770858G>C , CM000665.1:g.121770858G>C | GRCh37 |
| NC_000003.10:g.123253548G>C | NCBI36 |
| NG_029928.1:g.1650G>C | |
| NG_031870.2:g.13544C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011512739.1:c.-348+8409C>G | XP_011511041.1:n.-348+8409C>G |
| XM_011512739.2:c.-348+8409C>G | XP_011511041.1:n.-348+8409C>G |