Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118960467A>C , CM000670.2:g.118960467A>C | GRCh38 |
| NC_000008.10:g.119972706A>C , CM000670.1:g.119972706A>C | GRCh37 |
| NC_000008.9:g.120041887A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005250756.2:c.-60+8089A>C | XP_005250813.1:n.-60+8089A>C | |
| NM_001324095.1:c.-324+8089A>C | NP_001311024.1:n.-324+8089A>C | |
| XM_005250756.3:c.-60+8089A>C | XP_005250813.1:n.-60+8089A>C | |
| NM_001324095.2:c.-324+8089A>C | NP_001311024.1:n.-324+8089A>C |