Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118965553G>A , CM000670.2:g.118965553G>A | GRCh38 |
| NC_000008.10:g.119977792G>A , CM000670.1:g.119977792G>A | GRCh37 |
| NC_000008.9:g.120046973G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001324095.1:c.-324+13175G>A | NP_001311024.1:n.-324+13175G>A |
| NM_001324095.2:c.-324+13175G>A | NP_001311024.1:n.-324+13175G>A |
| XM_005250756.2:c.-60+13175G>A | XP_005250813.1:n.-60+13175G>A |
| XM_005250756.3:c.-60+13175G>A | XP_005250813.1:n.-60+13175G>A |