Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.108524704G>A , CM000665.2:g.108524704G>A | GRCh38 |
| NC_000003.11:g.108243551G>A , CM000665.1:g.108243551G>A | GRCh37 |
| NC_000003.10:g.109726241G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014981.1:c.3+4559C>T | NP_055796.1:n.3+4559C>T |
| NM_014981.2:c.3+4559C>T | NP_055796.1:n.3+4559C>T |
| ENST00000273353.3:c.3+4559C>T | ENSP00000273353.3:n.3+4559C>T |
| ENST00000273353.4:c.3+4559C>T | ENSP00000273353.3:n.3+4559C>T |
| ENST00000273353.5:c.-58+4559C>T | ENSP00000273353.4:n.-58+4559C>T |
| XM_011512559.1:c.3+4559C>T | XP_011510861.1:n.3+4559C>T |
| XM_011512559.2:c.3+4559C>T | XP_011510861.1:n.3+4559C>T |