Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55366645A>C , CM000685.2:g.55366645A>C | GRCh38 |
| NC_000023.10:g.55393078A>C , CM000685.1:g.55393078A>C | GRCh37 |
| NC_000023.9:g.55409803A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011530765.1:c.-9+94999T>G | XP_011529067.1:n.-9+94999T>G | |
| XM_011530766.1:c.-9+94999T>G | XP_011529068.1:n.-9+94999T>G |