Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119000461C>A , CM000670.2:g.119000461C>A | GRCh38 |
| NC_000008.10:g.120012700C>A , CM000670.1:g.120012700C>A | GRCh37 |
| NC_000008.9:g.120081881C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001324095.1:c.-323-36975C>A | NP_001311024.1:n.-323-36975C>A |
| NM_001324095.2:c.-323-36975C>A | NP_001311024.1:n.-323-36975C>A |
| ENST00000521788.1:n.122+4888C>A | |
| XM_005250756.2:c.-60+48083C>A | XP_005250813.1:n.-60+48083C>A |
| XM_005250756.3:c.-60+48083C>A | XP_005250813.1:n.-60+48083C>A |