Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764559C= , CM000674.2:g.57764559C= | GRCh38 |
| NC_000012.11:g.58158342C= , CM000674.1:g.58158342C= | GRCh37 |
| NC_000012.10:g.56444609C= | NCBI36 |
| NG_007076.1:g.7635G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1045-9G= | ENSP00000518840.1:n.1045-9G= | |
| ENST00000713545.1:c.1022-9G= | ENSP00000518841.1:n.1022-9G= | |
| ENST00000228606.9:c.964-9G= MANE Select | ENSP00000228606.4:n.964-9G= | |
| ENST00000228606.8:c.964-9G= | ENSP00000228606.4:n.964-9G= | |
| ENST00000546567.5:c.259-9G= | ENSP00000449472.1:n.259-9G= | |
| ENST00000547344.5:n.1103-9G= | ||
| ENST00000547451.1:n.958G= | ||
| NM_000785.3:c.964-9G= | NP_000776.1:n.964-9G= | |
| NM_000785.4:c.964-9G= MANE Select | NP_000776.1:n.964-9G= |