Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64338283A>C , CM000676.2:g.64338283A>C | GRCh38 |
| NC_000014.8:g.64805001A>C , CM000676.1:g.64805001A>C | GRCh37 |
| NC_000014.7:g.63874754A>C | NCBI36 |
| NG_011535.1:g.5268T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001291712.1:c.-1461T>G | NP_001278641.1:n.-1461T>G |
| NM_001291712.2:c.-1461T>G | NP_001278641.1:n.-1461T>G |
| NM_001291723.1:c.-476T>G | NP_001278652.1:n.-476T>G |
| NR_073496.1:n.268T>G | |
| NR_073496.2:n.331T>G | |
| XM_017021079.1:c.-784T>G | XP_016876568.1:n.-784T>G |
| XM_017021080.1:c.-1593T>G | XP_016876569.1:n.-1593T>G |
| XM_017021081.1:c.-689T>G | XP_016876570.1:n.-689T>G |
| XM_017021084.1:c.-784T>G | XP_016876573.1:n.-784T>G |