Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147491427G= , CM000669.2:g.147491427G= | GRCh38 |
| NC_000007.13:g.147188519G= , CM000669.1:g.147188519G= | GRCh37 |
| NC_000007.12:g.146819452G= | NCBI36 |
| NG_007092.2:g.1380067G= | |
| NG_007092.3:g.1380427G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1777+5386G= MANE Select | ENSP00000354778.3:n.1777+5386G= | |
| ENST00000636870.1:n.1639+5386G= | ||
| ENST00000637694.1:n.1681-5194G= | ||
| ENST00000637825.1:n.1260+5386G= | ||
| ENST00000638117.1:n.1680+5386G= | ||
| ENST00000361727.7:c.1777+5386G= | ENSP00000354778.3:n.1777+5386G= | |
| NM_014141.5:c.1777+5386G= | NP_054860.1:n.1777+5386G= | |
| XM_006715919.1:c.265+5386G= | XP_006715982.1:n.265+5386G= | |
| XM_017011950.2:c.1777+5386G= | XP_016867439.1:n.1777+5386G= | |
| NM_014141.6:c.1777+5386G= MANE Select | NP_054860.1:n.1777+5386G= |