Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765120C= , CM000674.2:g.57765120C= | GRCh38 |
| NC_000012.11:g.58158903C= , CM000674.1:g.58158903C= | GRCh37 |
| NC_000012.10:g.56445170C= | NCBI36 |
| NG_007076.1:g.7074G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.593G= | ||
| ENST00000713544.1:c.762G= | ENSP00000518840.1:p.Ser254= | |
| ENST00000713545.1:c.739G= | ENSP00000518841.1:p.Gly247= | |
| ENST00000228606.9:c.681G= MANE Select | ENSP00000228606.4:p.Ser227= | |
| ENST00000228606.8:c.681G= | ENSP00000228606.4:p.Ser227= | |
| ENST00000546567.5:c.-25G= | ENSP00000449472.1:n.-25G= | |
| ENST00000546609.1:c.593G= | ||
| ENST00000547344.5:n.820G= | ||
| ENST00000547451.1:n.481G= | ||
| NM_000785.3:c.681G= | NP_000776.1:p.Ser227= | |
| NM_000785.4:c.681G= MANE Select | NP_000776.1:p.Ser227= |