Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916509C>A , CM000673.2:g.34916509C>A | GRCh38 |
| NC_000011.9:g.34938056C>A , CM000673.1:g.34938056C>A | GRCh37 |
| NC_000011.8:g.34894632C>A | NCBI36 |
| NG_013368.1:g.5380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.-21+23C>A | ENSP00000389404.3:n.-21+23C>A | |
| ENST00000448838.7:c.115+23C>A | ENSP00000389404.2:n.115+23C>A | |
| ENST00000533550.5:c.-21+571C>A | ENSP00000431281.1:n.-21+571C>A | |
| NM_001135024.1:c.115+23C>A | NP_001128496.1:n.115+23C>A | |
| NM_001166158.1:c.-147C>A | NP_001159630.1:n.-147C>A | |
| NM_003477.2:c.-147C>A | NP_003468.2:n.-147C>A | |
| XM_011520390.1:c.-21+571C>A | XP_011518692.1:n.-21+571C>A | |
| NM_001135024.2:c.-21+23C>A | NP_001128496.2:n.-21+23C>A |