Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147491592A= , CM000669.2:g.147491592A= | GRCh38 |
| NC_000007.13:g.147188684A= , CM000669.1:g.147188684A= | GRCh37 |
| NC_000007.12:g.146819617A= | NCBI36 |
| NG_007092.2:g.1380232A= | |
| NG_007092.3:g.1380592A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1777+5551A= MANE Select | ENSP00000354778.3:n.1777+5551A= | |
| ENST00000636870.1:n.1639+5551A= | ||
| ENST00000637694.1:n.1681-5029A= | ||
| ENST00000637825.1:n.1260+5551A= | ||
| ENST00000638117.1:n.1680+5551A= | ||
| ENST00000361727.7:c.1777+5551A= | ENSP00000354778.3:n.1777+5551A= | |
| NM_014141.5:c.1777+5551A= | NP_054860.1:n.1777+5551A= | |
| XM_006715919.1:c.265+5551A= | XP_006715982.1:n.265+5551A= | |
| XM_017011950.2:c.1777+5551A= | XP_016867439.1:n.1777+5551A= | |
| NM_014141.6:c.1777+5551A= MANE Select | NP_054860.1:n.1777+5551A= |