Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32400220T>A , CM000668.2:g.32400220T>A | GRCh38 |
| NC_000006.11:g.32367997T>A , CM000668.1:g.32367997T>A | GRCh37 |
| NC_000006.10:g.32475975T>A | NCBI36 |
| NG_054759.1:g.13660A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374993.4:n.730+1565A>T | ENSP00000364132.1:p.= | |
| ENST00000454136.7:c.730+1565A>T | ENSP00000390613.3:p.= | |
| ENST00000465865.5:n.212+1565A>T | ENSP00000420063.1:p.= | |
| ENST00000544175.2:c.-102+1565A>T | ENSP00000443364.1:p.= | |
| NM_001304561.1:c.730+1565A>T | NP_001291490.1:p.= | |
| XM_011514755.1:c.730+1565A>T | XP_011513057.1:p.= | |
| XM_011514756.1:c.448+1565A>T | XP_011513058.1:p.= | |
| XM_011515039.1:c.482-5234T>A | XP_011513341.1:p.= | |
| XM_017011057.1:c.730+1565A>T | XP_016866546.1:p.= |