Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765919C= , CM000674.2:g.57765919C= | GRCh38 |
| NC_000012.11:g.58159702C= , CM000674.1:g.58159702C= | GRCh37 |
| NC_000012.10:g.56445969C= | NCBI36 |
| NG_007076.1:g.6275G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+88G= | ||
| ENST00000713544.1:c.386+88G= | ENSP00000518840.1:n.386+88G= | |
| ENST00000713545.1:c.386+88G= | ENSP00000518841.1:n.386+88G= | |
| ENST00000228606.9:c.386+88G= MANE Select | ENSP00000228606.4:n.386+88G= | |
| ENST00000228606.8:c.386+88G= | ENSP00000228606.4:n.386+88G= | |
| ENST00000546496.1:n.214+88G= | ||
| ENST00000546609.1:c.298+88G= | ||
| ENST00000547344.5:n.440+88G= | ||
| ENST00000552186.1:n.505+88G= | ||
| NM_000785.3:c.386+88G= | NP_000776.1:n.386+88G= | |
| NM_000785.4:c.386+88G= MANE Select | NP_000776.1:n.386+88G= |