Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764297A= , CM000674.2:g.57764297A= | GRCh38 |
| NC_000012.11:g.58158080A= , CM000674.1:g.58158080A= | GRCh37 |
| NC_000012.10:g.56444347A= | NCBI36 |
| NG_007076.1:g.7897T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1217+81T= | ENSP00000518840.1:n.1217+81T= | |
| ENST00000713545.1:c.*141+81T= | ENSP00000518841.1:n.*141+81T= | |
| ENST00000228606.9:c.1136+81T= MANE Select | ENSP00000228606.4:n.1136+81T= | |
| ENST00000228606.8:c.1136+81T= | ENSP00000228606.4:n.1136+81T= | |
| ENST00000546567.5:c.431+81T= | ENSP00000449472.1:n.431+81T= | |
| ENST00000547344.5:n.1275+81T= | ||
| NM_000785.3:c.1136+81T= | NP_000776.1:n.1136+81T= | |
| NM_000785.4:c.1136+81T= MANE Select | NP_000776.1:n.1136+81T= |